ClinVar Miner

List of variants in gene SCNN1A reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (916):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_001038.6(SCNN1A):c.*113C>T rs62620999
NM_001038.6(SCNN1A):c.*296C>T rs55981728
NM_001038.6(SCNN1A):c.*4G>A rs557017986
NM_001038.6(SCNN1A):c.*633G>T rs62618735
NM_001038.6(SCNN1A):c.*70T>C rs72657538
NM_001038.6(SCNN1A):c.*850C>T rs62627411
NM_001038.6(SCNN1A):c.*914A>G rs62619209
NM_001038.6(SCNN1A):c.*920C>T rs72657532
NM_001038.6(SCNN1A):c.-28T>C rs61759919
NM_001038.6(SCNN1A):c.-48A>G rs150809388
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.684+9C>T rs111317117
NM_001038.6(SCNN1A):c.876-13C>T rs201235216
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619

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