ClinVar Miner

List of variants reported as likely pathogenic for Congenital secretory diarrhea, chloride type

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Total variants: 48
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HGVS dbSNP
NM_000111.2(SLC26A3):c.1028G>A (p.Cys343Tyr) rs386833444
NM_000111.2(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla) rs386833445
NM_000111.2(SLC26A3):c.1136G>C (p.Gly379Ala) rs386833446
NM_000111.2(SLC26A3):c.1148_1149del (p.Ile383fs) rs386833447
NM_000111.2(SLC26A3):c.1306C>T (p.Gln436Ter) rs386833448
NM_000111.2(SLC26A3):c.1312-1G>A rs386833449
NM_000111.2(SLC26A3):c.1342_1343del (p.Leu448fs) rs386833450
NM_000111.2(SLC26A3):c.1360C>T (p.Gln454Ter) rs386833451
NM_000111.2(SLC26A3):c.1362del (p.Gln454fs) rs386833452
NM_000111.2(SLC26A3):c.1387C>T (p.Arg463Ter) rs386833453
NM_000111.2(SLC26A3):c.1403A>T (p.Asp468Val) rs386833454
NM_000111.2(SLC26A3):c.1408-1G>A rs386833455
NM_000111.2(SLC26A3):c.145_157del (p.Lys49fs) rs386833456
NM_000111.2(SLC26A3):c.1487T>G (p.Leu496Arg) rs386833457
NM_000111.2(SLC26A3):c.1515-2del rs386833458
NM_000111.2(SLC26A3):c.1517del (p.Pro506fs) rs386833459
NM_000111.2(SLC26A3):c.1526_1527del (p.Ser509fs) rs386833460
NM_000111.2(SLC26A3):c.1551_1554del (p.Asn518fs) rs386833461
NM_000111.2(SLC26A3):c.1559A>G (p.Tyr520Cys) rs386833462
NM_000111.2(SLC26A3):c.1563G>C (p.Lys521Asn) rs386833463
NM_000111.2(SLC26A3):c.1576_1578TAT[1] (p.Tyr527del) rs386833464
NM_000111.2(SLC26A3):c.1609del (p.Ile537fs) rs386833465
NM_000111.2(SLC26A3):c.1624_1626delinsC (p.Ser542fs) rs386833466
NM_000111.2(SLC26A3):c.1631T>A (p.Ile544Asn) rs386833467
NM_000111.2(SLC26A3):c.177dup (p.Ile60fs) rs386833468
NM_000111.2(SLC26A3):c.1990del (p.Ser663_Val664insTer) rs386833469
NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000111.2(SLC26A3):c.2063-1G>T rs386833471
NM_000111.2(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe) rs386833472
NM_000111.2(SLC26A3):c.2116del (p.Ser706fs) rs386833473
NM_000111.2(SLC26A3):c.2132T>G (p.Leu711Ter) rs386833474
NM_000111.2(SLC26A3):c.2205+3A>G rs386833475
NM_000111.2(SLC26A3):c.269_270dup (p.Gly91fs) rs386833476
NM_000111.2(SLC26A3):c.332del (p.Phe111fs) rs386833477
NM_000111.2(SLC26A3):c.344del (p.Ile115fs) rs386833478
NM_000111.2(SLC26A3):c.358G>A (p.Gly120Ser) rs386833479
NM_000111.2(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000111.2(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000111.2(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000111.2(SLC26A3):c.392del (p.Pro131fs) rs386833482
NM_000111.2(SLC26A3):c.408G>A (p.Met136Ile) rs386833483
NM_000111.2(SLC26A3):c.525G>C (p.Arg175Ser) rs386833484
NM_000111.2(SLC26A3):c.571-1G>T rs386833485
NM_000111.2(SLC26A3):c.571-2A>G rs386833486
NM_000111.2(SLC26A3):c.610T>G (p.Tyr204Asp) rs386833487
NM_000111.2(SLC26A3):c.616T>C (p.Ser206Pro) rs386833488
NM_000111.2(SLC26A3):c.659A>C (p.His220Pro) rs386833489
NM_000111.2(SLC26A3):c.915C>A (p.Tyr305Ter) rs386833490

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