Total 137 pathogenic variants reported for Arginase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) SNV
Germline		 Chr6:131583810 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA339968 rs_104893940

5 SubmittersRCV000002489
NM_000045.4(ARG1):c.869C>G (p.Thr290Ser) SNV
Germline		 Chr6:131583808 Pathogenic Arginase deficiency No Assertion Criteria Provided
 CA339970 rs_104893942

1 SubmittersRCV000002490
NM_000045.4(ARG1):c.365G>A (p.Trp122Ter) SNV
Germline		 Chr6:131581278 Pathogenic Arginase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339972 rs_104893947

4 SubmittersRCV000002491RCV000480650
NM_000045.4(ARG1):c.703G>C (p.Gly235Arg) SNV
Germline		 Chr6:131583392 Pathogenic Arginase deficiency Criteria Provided
Single Submitter
 CA339974 rs_104893948

2 SubmittersRCV000002492
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) SNV
Germline		 Chr6:131573314 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA339975 rs_28941474

4 SubmittersRCV000002494
NM_000045.4(ARG1):c.57+1G>A SNV
Germline		 Chr6:131573340 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA339977 rs_587776539

5 SubmittersRCV000002496
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) SNV
Germline		 Chr6:131576666 Pathogenic Arginase deficiency
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339978 rs_104893944

9 SubmittersRCV000002498RCV000421601RCV002512678
NM_000045.4(ARG1):c.305+7T>C SNV
Germline		 Chr6:131579292 Conflicting classifications of pathogenicity Arginase deficiency Criteria Provided
Conflicting Classifications
 CA10625754 rs_886061060

2 SubmittersRCV000330678
NM_000045.4(ARG1):c.75A>G (p.Glu25=) SNV
Germline		 Chr6:131576680 Conflicting classifications of pathogenicity Arginase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3999170 rs_755973004

4 SubmittersRCV000388499RCV001706588
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) SNV
Germline		 Chr6:131583883 Conflicting classifications of pathogenicity Arginase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3999416 rs_202219126

3 SubmittersRCV000281645RCV003325480
NM_000045.4(ARG1):c.466-1G>C SNV
Germline		 Chr6:131582620 Pathogenic Condition: not provided
Arginase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618244 rs_1064794165

5 SubmittersRCV000484167RCV000666865
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) SNV
Germline		 Chr6:131583392 Pathogenic Condition: not provided
Arginase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3999348 rs_104893948

4 SubmittersRCV000485579RCV000667889
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) SNV
Germline		 Chr6:131583831 Conflicting classifications of pathogenicity Condition: not provided
Arginase deficiency		 Criteria Provided
Conflicting Classifications
 CA3999402 rs_755359126

5 SubmittersRCV000482365RCV000668053
NM_000045.4(ARG1):c.709G>A (p.Asp237Asn) SNV
Germline		 Chr6:131583398 Conflicting classifications of pathogenicity Condition: not provided
Arginase deficiency		 Criteria Provided
Conflicting Classifications
 CA365652594 rs_764273304

2 SubmittersRCV000489823RCV001851319
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) SNV
Germline		 Chr6:131576667 Conflicting classifications of pathogenicity Arginase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3999166 rs_144994895

4 SubmittersRCV000709774RCV001698470
NM_000045.4(ARG1):c.58-2A>C SNV
Unknown		 Chr6:131576661 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_1554250040

1 SubmittersRCV000664471
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) SNV
Germline		 Chr6:131576685 Conflicting classifications of pathogenicity Arginase deficiency Criteria Provided
Conflicting Classifications
 rs_1326930389

2 SubmittersRCV000665999
NM_000045.4(ARG1):c.130+1G>T SNV
Unknown		 Chr6:131576736 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_113767658

1 SubmittersRCV000671671
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) SNV
Germline		 Chr6:131579275 Pathogenic/Likely pathogenic Arginase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_753829097

5 SubmittersRCV000666611RCV003228976
NM_000045.4(ARG1):c.466-2A>G SNV
Germline		 Chr6:131582619 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_1554251045

3 SubmittersRCV000673724
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) SNV
Unknown		 Chr6:131583476 Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_747579073

2 SubmittersRCV000674156
NM_000045.4(ARG1):c.2T>C (p.Met1Thr) SNV
Germline		 Chr6:131573284 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_1554249332

3 SubmittersRCV000671896
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) SNV
Germline		 Chr6:131581338 Conflicting classifications of pathogenicity Arginase deficiency Criteria Provided
Conflicting Classifications
 rs_767219084

3 SubmittersRCV000671959
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) SNV
Unknown		 Chr6:131583852 Conflicting classifications of pathogenicity Arginase deficiency Criteria Provided
Conflicting Classifications
 rs_866970619

2 SubmittersRCV000667699
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) SNV
Germline		 Chr6:131583862 Pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_377280518

5 SubmittersRCV000665488
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) SNV
Germline		 Chr6:131581296 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_140549609

6 SubmittersRCV000779489
NM_000045.4(ARG1):c.3G>A (p.Met1Ile) SNV
Germline		 Chr6:131573285 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_745624953

2 SubmittersRCV000799290
NM_000045.4(ARG1):c.612C>A (p.Asp204Glu) SNV
Germline		 Chr6:131583111 Conflicting classifications of pathogenicity Arginase deficiency
ARG1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_775435820

2 SubmittersRCV000817567RCV003411807
NM_000045.4(ARG1):c.317G>A (p.Gly106Glu) SNV
Unknown		 Chr6:131581230 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_1441486160

1 SubmittersRCV000987780
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) SNV
Germline		 Chr6:131581317 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_1451472748

5 SubmittersRCV000987781
NM_000045.4(ARG1):c.142A>T (p.Lys48Ter) SNV
Germline		 Chr6:131579122 Pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_1773783170

1 SubmittersRCV001050878
NM_000045.4(ARG1):c.131-1G>C SNV
Germline		 Chr6:131579110 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_1773782306

1 SubmittersRCV001039338
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) SNV
Germline		 Chr12:124975476 Pathogenic 46,XY sex reversal 11
Condition: not provided
Arginase deficiency
DHX37-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1384892917

5 SubmittersRCV001089510RCV001840781RCV004526800RCV004579568
NM_000045.4(ARG1):c.804G>C (p.Gly268=) SNV
Germline		 Chr6:131583743 Conflicting classifications of pathogenicity Arginase deficiency Criteria Provided
Conflicting Classifications
 rs_747275658

2 SubmittersRCV001151466
NM_000045.4(ARG1):c.936C>T (p.His312=) SNV
Germline		 Chr6:131583875 Conflicting classifications of pathogenicity Arginase deficiency Criteria Provided
Conflicting Classifications
 rs_776119677

2 SubmittersRCV001151468
NM_000045.4(ARG1):c.434T>A (p.Val145Glu) SNV
Germline		 Chr6:131581347 Pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_1773915383

2 SubmittersRCV001172232
NM_000045.4(ARG1):c.745G>C (p.Val249Leu) SNV
Germline		 Chr6:131583434 Conflicting classifications of pathogenicity Arginase deficiency Criteria Provided
Conflicting Classifications
 rs_182650447

2 SubmittersRCV001240670
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) SNV
Germline		 Chr6:131581341 Conflicting classifications of pathogenicity Arginase deficiency Criteria Provided
Conflicting Classifications
 rs_754259099

3 SubmittersRCV001544512
NM_000045.4(ARG1):c.922C>T (p.Arg308Trp) SNV
Germline		 Chr6:131583861 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_897222563

1 SubmittersRCV001310012
NM_000045.4(ARG1):c.370G>T (p.Asp124Tyr) SNV
Unknown		 Chr6:131581283 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_1773910245

1 SubmittersRCV001332127
NM_000045.4(ARG1):c.23T>A (p.Ile8Lys) SNV
Germline		 Chr6:131573305 Pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_149310631

2 SubmittersRCV001349284
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter) SNV
Germline		 Chr6:131581279 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_2114539596

2 SubmittersRCV001380853
NM_000045.4(ARG1):c.492G>A (p.Trp164Ter) SNV
Germline		 Chr6:131582647 Pathogenic/Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_146625637

2 SubmittersRCV001388640
NM_000045.4(ARG1):c.305+1G>A SNV
Germline		 Chr6:131579286 Pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_112432420

1 SubmittersRCV001844000
NM_000045.4(ARG1):c.751G>A (p.Gly251Ser) SNV
Germline		 Chr6:131583440 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_2114549524

1 SubmittersRCV001844001
NM_000045.4(ARG1):c.665+2T>C SNV
Germline		 Chr6:131583166 Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_113645893

3 SubmittersRCV002048951
NM_000045.4(ARG1):c.251T>C (p.Val84Ala) SNV
Germline		 Chr6:131579231 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_1311659158

1 SubmittersRCV002048877
NM_000045.4(ARG1):c.124G>T (p.Glu42Ter) SNV
Germline		 Chr6:131576729 Pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_748744950

2 SubmittersRCV001871492
NM_000045.4(ARG1):c.560+2T>C SNV
Germline		 Chr6:131582717 Pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_2114546081

2 SubmittersRCV002019961
NM_000045.4(ARG1):c.766G>T (p.Glu256Ter) SNV
Germline		 Chr6:131583455 Pathogenic Arginase deficiency Criteria Provided
Single Submitter
 rs_2114549604

1 SubmittersRCV001994776
NM_000045.4(ARG1):c.130+1G>A SNV
Germline		 Chr6:131576736 Pathogenic Arginase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_113767658

2 SubmittersRCV001933794RCV003327541
NM_000045.4(ARG1):c.661G>T (p.Gly221Ter) SNV
Unknown		 Chr6:131583160 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002309544
NM_000045.4(ARG1):c.637G>T (p.Glu213Ter) SNV
Unknown		 Chr6:131583136 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002310217
NM_000045.4(ARG1):c.75A>C (p.Glu25Asp) SNV
Germline		 Chr6:131576680 Conflicting classifications of pathogenicity Condition: not provided
Arginase deficiency		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002474028RCV002571503
NM_000045.4(ARG1):c.401C>T (p.Thr134Ile) SNV
Germline		 Chr6:131581314 Pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003060080
NM_000045.4(ARG1):c.306-1G>T SNV
Germline		 Chr6:131581218 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002741312
NM_000045.4(ARG1):c.371A>G (p.Asp124Gly) SNV
Germline		 Chr6:131581284 Pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002765367
NM_000045.4(ARG1):c.802+1G>A SNV
Germline		 Chr6:131583492 Pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002928484
NM_000045.4(ARG1):c.57+1G>T SNV
Germline		 Chr6:131573340 Pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003028630
NM_000045.4(ARG1):c.666-2A>C SNV
Germline		 Chr6:131583353 Pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003056323
NM_000045.4(ARG1):c.491G>A (p.Trp164Ter) SNV
Germline		 Chr6:131582646 Pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471784
NM_000045.4(ARG1):c.374C>T (p.Ala125Val) SNV
Germline		 Chr6:131581287 Likely pathogenic Arginase deficiency Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463454
NM_000045.4(ARG1):c.802+2T>C SNV
Unknown		 Chr6:131583493 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003471805
NM_000045.4(ARG1):c.666-2A>T SNV
Unknown		 Chr6:131583353 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003471816
NM_000045.4(ARG1):c.700G>C (p.Asp234His) SNV
Unknown		 Chr6:131583389 Pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003463502
NM_000045.4(ARG1):c.465+1G>A SNV
Unknown		 Chr6:131581379 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003463503
NM_000045.4(ARG1):c.58-2A>T SNV
Germline		 Chr6:131576661 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003604327
NM_000045.4(ARG1):c.131-1G>T SNV
Germline		 Chr6:131579110 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003604465
NM_000045.4(ARG1):c.316G>A (p.Gly106Arg) SNV
Germline		 Chr6:131581229 Pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003990667
NM_000045.4(ARG1):c.57+1G>C SNV
Unknown		 Chr6:131573340 Likely pathogenic Arginase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004574768