Total 72 pathogenic variants reported for Congenital secretory diarrhea, chloride type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000111.3(SLC26A3):c.371A>T (p.His124Leu) SNV
Germline		 Chr7:107791841 Pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA126853 rs_121913030

1 SubmittersRCV000018240
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) SNV
Germline		 Chr7:107791059 Pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA126855 rs_121913032

13 SubmittersRCV000018244RCV000522939
NM_000111.3(SLC26A3):c.1386G>A (p.Trp462Ter) SNV
Germline		 Chr7:107779689 Pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA126858 rs_121913033

1 SubmittersRCV000018246
NM_000111.3(SLC26A3):c.1028G>A (p.Cys343Tyr) SNV
Not provided		 Chr7:107783296 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144035 rs_386833444

1 SubmittersRCV000049371
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter) SNV
Germline		 Chr7:107782802 Pathogenic Congenital secretory diarrhea, chloride type Criteria Provided
Single Submitter
 CA144043 rs_386833448

2 SubmittersRCV000049375
NM_000111.3(SLC26A3):c.1312-1G>A SNV
Not provided		 Chr7:107779764 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144046 rs_386833449

1 SubmittersRCV000049376
NM_000111.3(SLC26A3):c.1360C>T (p.Gln454Ter) SNV
Not provided		 Chr7:107779715 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144048 rs_386833451

1 SubmittersRCV000049378
NM_000111.3(SLC26A3):c.1387C>T (p.Arg463Ter) SNV
Germline		 Chr7:107779688 Pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Single Submitter
 CA144052 rs_386833453

2 SubmittersRCV000049380RCV003556120
NM_000111.3(SLC26A3):c.1403A>T (p.Asp468Val) SNV
Not provided		 Chr7:107779672 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144055 rs_386833454

1 SubmittersRCV000049381
NM_000111.3(SLC26A3):c.1408-1G>A SNV
Not provided		 Chr7:107778282 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144057 rs_386833455

1 SubmittersRCV000049382
NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg) SNV
Not provided		 Chr7:107778202 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144059 rs_386833457

1 SubmittersRCV000049384
NM_000111.3(SLC26A3):c.1559A>G (p.Tyr520Cys) SNV
Not provided		 Chr7:107776662 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144065 rs_386833462

1 SubmittersRCV000049389
NM_000111.3(SLC26A3):c.1563G>C (p.Lys521Asn) SNV
Not provided		 Chr7:107776658 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144067 rs_386833463

1 SubmittersRCV000049390
NM_000111.3(SLC26A3):c.1631T>A (p.Ile544Asn) SNV
Germline		 Chr7:107776498 Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144074 rs_386833467

3 SubmittersRCV000049394RCV003556122
NM_000111.3(SLC26A3):c.2063-1G>T SNV
Germline		 Chr7:107767909 Pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144081 rs_386833471

3 SubmittersRCV000049398RCV001853037
NM_000111.3(SLC26A3):c.2132T>G (p.Leu711Ter) SNV
Not provided		 Chr7:107767839 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144086 rs_386833474

1 SubmittersRCV000049401
NM_000111.3(SLC26A3):c.2205+3A>G SNV
Not provided		 Chr7:107767763 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144089 rs_386833475

1 SubmittersRCV000049402
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser) SNV
Germline		 Chr7:107791854 Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144093 rs_386833479

3 SubmittersRCV000049406RCV003556125
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) SNV
Germline		 Chr7:107791232 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA144095 rs_386833480

4 SubmittersRCV000049407RCV002513683
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg) SNV
Germline		 Chr7:107791226 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA144097 rs_386833481

3 SubmittersRCV000049408RCV003556126
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) SNV
Germline		 Chr7:107791226 Pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144099 rs_386833481

3 SubmittersRCV000049409RCV003556127
NM_000111.3(SLC26A3):c.408G>A (p.Met136Ile) SNV
Not provided		 Chr7:107791210 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144102 rs_386833483

1 SubmittersRCV000049411
NM_000111.3(SLC26A3):c.525G>C (p.Arg175Ser) SNV
Not provided		 Chr7:107791093 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144104 rs_386833484

1 SubmittersRCV000049412
NM_000111.3(SLC26A3):c.571-1G>T SNV
Germline		 Chr7:107789689 Pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144107 rs_386833485

3 SubmittersRCV000049413RCV001853038
NM_000111.3(SLC26A3):c.571-2A>G SNV
Germline		 Chr7:107789690 Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided
SLC26A3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144108 rs_386833486

4 SubmittersRCV000049414RCV000998892RCV003964905
NM_000111.3(SLC26A3):c.610T>G (p.Tyr204Asp) SNV
Not provided		 Chr7:107789649 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144109 rs_386833487

1 SubmittersRCV000049415
NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro) SNV
Not provided		 Chr7:107789643 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144111 rs_386833488

1 SubmittersRCV000049416
NM_000111.3(SLC26A3):c.659A>C (p.His220Pro) SNV
Not provided		 Chr7:107789600 Likely pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided
 CA144113 rs_386833489

1 SubmittersRCV000049417
NM_000111.3(SLC26A3):c.915C>A (p.Tyr305Ter) SNV
Germline		 Chr7:107786883 Pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Single Submitter
 CA144115 rs_386833490

2 SubmittersRCV000049418RCV003556128
NM_000111.3(SLC26A3):c.1786T>G (p.Cys596Gly) SNV
Germline		 Chr7:107774141 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4433686 rs_201220816

3 SubmittersRCV000303361RCV002058644RCV002524518
NM_000111.3(SLC26A3):c.711C>G (p.His237Gln) SNV
Germline		 Chr7:107789548 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4434057 rs_145962719

3 SubmittersRCV000286342RCV001861297RCV002523580
NM_000111.3(SLC26A3):c.571-9T>C SNV
Germline		 Chr7:107789697 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4434080 rs_200735098

2 SubmittersRCV000377355RCV002058646
NM_000111.3(SLC26A3):c.741A>G (p.Leu247=) SNV
Germline		 Chr7:107787504 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4434034 rs_188437289

2 SubmittersRCV000326115RCV002058645
NM_000111.3(SLC26A3):c.891C>T (p.Thr297=) SNV
Germline		 Chr7:107786907 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4433997 rs_367700437

2 SubmittersRCV000366052RCV002524519
NM_000111.3(SLC26A3):c.271+7T>A SNV
Germline		 Chr7:107793735 Conflicting classifications of pathogenicity Condition: not provided
Congenital secretory diarrhea, chloride type		 Criteria Provided
Conflicting Classifications
 CA4434206 rs_200385882

2 SubmittersRCV000975941RCV000392859
NM_000111.3(SLC26A3):c.1677+10G>A SNV
Germline		 Chr7:107776442 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4433749 rs_367754347

2 SubmittersRCV000391208RCV001511136
NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter) SNV
Germline		 Chr7:107774854 Pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1018933248

3 SubmittersRCV000987941RCV002290501
NM_000111.3(SLC26A3):c.915C>T (p.Tyr305=) SNV
Germline		 Chr7:107786883 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided
SLC26A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_386833490

3 SubmittersRCV001163360RCV002559564RCV003898159
NM_000111.3(SLC26A3):c.295G>A (p.Asp99Asn) SNV
Germline		 Chr7:107791917 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_150004100

3 SubmittersRCV001158761RCV002032469RCV004032836
NM_000111.3(SLC26A3):c.261C>A (p.Ala87=) SNV
Germline		 Chr7:107793752 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_202020458

2 SubmittersRCV001158762RCV002070958
NM_000111.3(SLC26A3):c.1234-9T>A SNV
Germline		 Chr7:107782883 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided
SLC26A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_763953558

3 SubmittersRCV001161861RCV002071006RCV003918747
NM_000111.3(SLC26A3):c.736-9T>C SNV
Germline		 Chr7:107787518 Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_374479892

2 SubmittersRCV001163362RCV002558567
NM_000111.3(SLC26A3):c.1307A>G (p.Gln436Arg) SNV
Germline		 Chr7:107782801 Likely pathogenic Congenital secretory diarrhea, chloride type Criteria Provided
Single Submitter
 rs_1203528953

1 SubmittersRCV001775310
NM_004963.4(GUCY2C):c.2384G>A (p.Arg795Lys) SNV
Germline		 Chr12:14625781 Conflicting classifications of pathogenicity Condition: not provided
Congenital secretory diarrhea, chloride type		 Criteria Provided
Conflicting Classifications
 rs_147296490

2 SubmittersRCV001981754RCV002466720
NM_000111.3(SLC26A3):c.1514+1G>A SNV
Germline		 Chr7:107778174 Pathogenic Congenital secretory diarrhea, chloride type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002466896RCV003775492
NM_000111.3(SLC26A3):c.1679T>A (p.Val560Asp) SNV
Germline		 Chr7:107774871 Pathogenic Congenital secretory diarrhea, chloride type No Assertion Criteria Provided

1 SubmittersRCV003459815