ClinVar Miner

List of variants reported as pathogenic for congenital secretory chloride diarrhea 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs) rs386833476 0.00001
NM_000111.3(SLC26A3):c.614del (p.Leu205fs) rs1264217866 0.00001
NM_000111.3(SLC26A3):c.1631T>A (p.Ile544Asn) rs386833467
NM_000111.3(SLC26A3):c.1735C>T (p.Arg579Ter)
NM_000111.3(SLC26A3):c.177dup (p.Ile60fs) rs386833468
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000111.3(SLC26A3):c.735+4_735+7del
NM_000111.3(SLC26A3):c.915C>A (p.Tyr305Ter) rs386833490
NM_000111.3(SLC26A3):c.951_953del (p.Val318del) rs386833491

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