Total 38 pathogenic variants reported for Aromatase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) SNV
Germline		 Chr15:51211017 Pathogenic Aromatase deficiency
Condition: not provided		 Criteria Provided
Single Submitter
 CA127454 rs_121434534

3 SubmittersRCV000019393RCV000814400
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) SNV
Germline		 Chr15:51211010 Pathogenic Aromatase deficiency No Assertion Criteria Provided
 CA127456 rs_78310315

1 SubmittersRCV000019394
NM_000103.4(CYP19A1):c.743+2T>C SNV
Germline		 Chr15:51218539 Pathogenic Aromatase deficiency No Assertion Criteria Provided
 CA213003 rs_786205107

1 SubmittersRCV000019395
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) SNV
Germline		 Chr15:51212460 Pathogenic Aromatase deficiency No Assertion Criteria Provided
 CA127458 rs_121434536

1 SubmittersRCV000019396
NM_000103.4(CYP19A1):c.296+1G>A SNV
Germline		 Chr15:51236858 Pathogenic Aromatase deficiency No Assertion Criteria Provided
 CA213005 rs_786205109

1 SubmittersRCV000019398
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) SNV
Germline		 Chr15:51212489 Likely pathogenic Aromatase deficiency Criteria Provided
Single Submitter
 CA127460 rs_80051519

2 SubmittersRCV000019399
NM_000103.4(CYP19A1):c.629-3C>A SNV
Germline		 Chr15:51218658 Pathogenic Aromatase deficiency No Assertion Criteria Provided
 CA213006 rs_786205110

1 SubmittersRCV000019401
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) SNV
Germline		 Chr15:51222349 Pathogenic Aromatase deficiency
Condition: not provided
Aromatase excess syndrome
Aromatase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127462 rs_121434538

3 SubmittersRCV000019404RCV001851942RCV005003394
NM_000103.4(CYP19A1):c.49G>A (p.Val17Met) SNV
Germline		 Chr15:51242864 Conflicting classifications of pathogenicity Aromatase deficiency
Condition: not provided
CYP19A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA7560176 rs_200111039

3 SubmittersRCV000344503RCV002061186RCV003930364
NM_000103.4(CYP19A1):c.629-10T>C SNV
Germline		 Chr15:51218665 Conflicting classifications of pathogenicity Aromatase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7559991 rs_781489846

2 SubmittersRCV000387706RCV001452143
NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=) SNV
Germline		 Chr15:51212470 Conflicting classifications of pathogenicity Condition: not provided
Aromatase deficiency		 Criteria Provided
Conflicting Classifications
 CA7559863 rs_774007712

3 SubmittersRCV000914156RCV001275589
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) SNV
Germline		 Chr15:51222476 Conflicting classifications of pathogenicity Condition: not provided
Aromatase deficiency		 Criteria Provided
Conflicting Classifications
 CA7560040 rs_35900050

3 SubmittersRCV000926434RCV001119999
NM_000103.4(CYP19A1):c.465C>T (p.Pro155=) SNV
Germline		 Chr15:51222512 Conflicting classifications of pathogenicity Condition: not provided
Aromatase deficiency		 Criteria Provided
Conflicting Classifications
 CA7560051 rs_146495071

3 SubmittersRCV000945199RCV001120000
NM_000103.4(CYP19A1):c.24G>A (p.Pro8=) SNV
Germline		 Chr15:51242889 Conflicting classifications of pathogenicity Condition: not provided
Aromatase deficiency		 Criteria Provided
Conflicting Classifications
 CA7560184 rs_143386224

2 SubmittersRCV000944238RCV001115409
NM_181789.4(GLDN):c.95C>G (p.Ala32Gly) SNV
Germline		 Chr15:51341779 Conflicting classifications of pathogenicity Condition: not provided
Lethal congenital contracture syndrome 11
Aromatase deficiency		 Criteria Provided
Conflicting Classifications
 CA7560215 rs_779432560

2 SubmittersRCV000995359RCV004731075
NM_000103.4(CYP19A1):c.297-1G>C SNV
Germline		 Chr15:51227934 Likely pathogenic Condition: not provided
Aromatase deficiency
Aromatase excess syndrome
Aromatase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7560099 rs_768157788

3 SubmittersRCV001065984RCV001827423RCV002489695
NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=) SNV
Germline		 Chr15:51210832 Conflicting classifications of pathogenicity Aromatase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7559769 rs_374079882

2 SubmittersRCV001118479RCV001394014
NM_000103.4(CYP19A1):c.1230C>T (p.Pro410=) SNV
Germline		 Chr15:51212353 Conflicting classifications of pathogenicity Aromatase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA490595640 rs_775991900

2 SubmittersRCV001118480RCV001434343
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) SNV
Germline		 Chr15:51218563 Conflicting classifications of pathogenicity Aromatase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7559977 rs_143562020

4 SubmittersRCV001119998RCV002556567
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) SNV
Germline		 Chr15:51227847 Conflicting classifications of pathogenicity Aromatase deficiency
Premature ovarian failure		 Criteria Provided
Conflicting Classifications
 CA7560086 rs_375975652

2 SubmittersRCV001120303RCV001270230
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=) SNV
Germline		 Chr15:51227894 Conflicting classifications of pathogenicity Aromatase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7560095 rs_139905959

3 SubmittersRCV001120305RCV001504029
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys) SNV
Germline		 Chr15:51236913 Conflicting classifications of pathogenicity Aromatase deficiency
not specified
Aromatase deficiency
Aromatase excess syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7560127 rs_199845027

4 SubmittersRCV001120306RCV002249731RCV005012575RCV006465408
NM_000103.4(CYP19A1):c.1263+1G>T SNV
Germline		 Chr15:51212319 Pathogenic/Likely pathogenic Aromatase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA392424514 rs_2031075939

3 SubmittersRCV001196822RCV003558753
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) SNV
Germline		 Chr15:51227887 Pathogenic Condition: not provided
Aromatase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA392421264 rs_2141079375

4 SubmittersRCV001586504RCV001832802
NM_000103.4(CYP19A1):c.146-2A>G SNV
Germline		 Chr15:51237011 Likely pathogenic Condition: not provided
Aromatase excess syndrome
Aromatase deficiency		 Criteria Provided
Single Submitter
 CA392422535 rs_2542466633

2 SubmittersRCV002856304RCV005626696
NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser) SNV
Germline		 Chr15:51212351 Conflicting classifications of pathogenicity Aromatase deficiency
Condition: not provided
Aromatase excess syndrome
Aromatase deficiency		 Criteria Provided
Conflicting Classifications
 CA7559840 rs_375990501

4 SubmittersRCV003230825RCV005636878RCV005012822
NM_000103.4(CYP19A1):c.1024G>T (p.Glu342Ter) SNV
Germline		 Chr15:51212559 Pathogenic/Likely pathogenic Condition: not provided
Aromatase excess syndrome
Aromatase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA392425060 rs_2542394532

2 SubmittersRCV003560780RCV005013047
NM_000103.4(CYP19A1):c.1369C>T (p.Arg457Ter) SNV
Germline		 Chr15:51210951 Likely pathogenic Aromatase deficiency
Aromatase excess syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005009723
NM_000103.4(CYP19A1):c.1022-2A>G SNV
Germline		 Chr15:51212563 Likely pathogenic Aromatase deficiency
Aromatase excess syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005003081
NM_000103.4(CYP19A1):c.724A>T (p.Lys242Ter) SNV
Germline		 Chr15:51218560 Likely pathogenic Aromatase deficiency
Aromatase excess syndrome
Aromatase deficiency		 Criteria Provided
Single Submitter

2 SubmittersRCV005003082RCV005618410
NM_000103.4(CYP19A1):c.145+2T>A SNV
Germline		 Chr15:51242766 Likely pathogenic Aromatase deficiency
Aromatase excess syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005003083
NM_000103.4(CYP19A1):c.367C>T (p.Gln123Ter) SNV
Germline		 Chr15:51227863 Pathogenic Aromatase deficiency Criteria Provided
Single Submitter

2 SubmittersRCV005253527
NM_000103.4(CYP19A1):c.451+2T>C SNV
Germline		 Chr15:51227777 Likely pathogenic Aromatase deficiency No Assertion Criteria Provided

1 SubmittersRCV005619026