ClinVar Miner

List of variants reported as likely pathogenic for congenital secretory chloride diarrhea 1 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000111.3(SLC26A3):c.2063-1G>T rs386833471 0.00004
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser) rs386833479 0.00004
NM_000111.3(SLC26A3):c.571-2A>G rs386833486 0.00003
NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala) rs386833446 0.00001
NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs) rs386833476 0.00001
NM_000111.3(SLC26A3):c.344del (p.Ile115fs) rs386833478 0.00001
NM_000111.3(SLC26A3):c.408G>A (p.Met136Ile) rs386833483 0.00001
NM_000111.3(SLC26A3):c.1028G>A (p.Cys343Tyr) rs386833444
NM_000111.3(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla) rs386833445
NM_000111.3(SLC26A3):c.1148_1149del (p.Ile383fs) rs386833447
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter) rs386833448
NM_000111.3(SLC26A3):c.1312-1G>A rs386833449
NM_000111.3(SLC26A3):c.1342_1343del (p.Leu448fs) rs386833450
NM_000111.3(SLC26A3):c.1360C>T (p.Gln454Ter) rs386833451
NM_000111.3(SLC26A3):c.1362del (p.Gln454fs) rs386833452
NM_000111.3(SLC26A3):c.1387C>T (p.Arg463Ter) rs386833453
NM_000111.3(SLC26A3):c.1403A>T (p.Asp468Val) rs386833454
NM_000111.3(SLC26A3):c.1408-1G>A rs386833455
NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs) rs386833456
NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg) rs386833457
NM_000111.3(SLC26A3):c.1515-2del rs386833458
NM_000111.3(SLC26A3):c.1517del (p.Pro506fs) rs386833459
NM_000111.3(SLC26A3):c.1526_1527del (p.Ser509fs) rs386833460
NM_000111.3(SLC26A3):c.1551_1554del (p.Asn518fs) rs386833461
NM_000111.3(SLC26A3):c.1559A>G (p.Tyr520Cys) rs386833462
NM_000111.3(SLC26A3):c.1563G>C (p.Lys521Asn) rs386833463
NM_000111.3(SLC26A3):c.1576TAT[1] (p.Tyr527del) rs386833464
NM_000111.3(SLC26A3):c.1609del (p.Ile537fs) rs386833465
NM_000111.3(SLC26A3):c.1624_1626delinsC (p.Ser542fs) rs386833466
NM_000111.3(SLC26A3):c.1631T>A (p.Ile544Asn) rs386833467
NM_000111.3(SLC26A3):c.177dup (p.Ile60fs) rs386833468
NM_000111.3(SLC26A3):c.1990del (p.Ser663_Val664insTer) rs386833469
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000111.3(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe) rs386833472
NM_000111.3(SLC26A3):c.2116del (p.Ser706fs) rs386833473
NM_000111.3(SLC26A3):c.2132T>G (p.Leu711Ter) rs386833474
NM_000111.3(SLC26A3):c.2205+3A>G rs386833475
NM_000111.3(SLC26A3):c.332del (p.Phe111fs) rs386833477
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000111.3(SLC26A3):c.392del (p.Pro131fs) rs386833482
NM_000111.3(SLC26A3):c.525G>C (p.Arg175Ser) rs386833484
NM_000111.3(SLC26A3):c.571-1G>T rs386833485
NM_000111.3(SLC26A3):c.610T>G (p.Tyr204Asp) rs386833487
NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro) rs386833488
NM_000111.3(SLC26A3):c.659A>C (p.His220Pro) rs386833489
NM_000111.3(SLC26A3):c.915C>A (p.Tyr305Ter) rs386833490

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.