ClinVar Miner

List of variants in gene SCNN1A studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NM_001038.6(SCNN1A):c.*113C>T rs62620999
NM_001038.6(SCNN1A):c.*114G>A rs886049756
NM_001038.6(SCNN1A):c.*296C>T rs55981728
NM_001038.6(SCNN1A):c.*415C>T rs886049755
NM_001038.6(SCNN1A):c.*4G>A rs557017986
NM_001038.6(SCNN1A):c.*580A>C rs886049754
NM_001038.6(SCNN1A):c.*590C>G rs886049753
NM_001038.6(SCNN1A):c.*633G>T rs62618735
NM_001038.6(SCNN1A):c.*70T>C rs72657538
NM_001038.6(SCNN1A):c.*736T>G rs886049752
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.1000G>A (p.Ala334Thr) rs11542844
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) rs181065138
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) rs886049757
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)
NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys) rs1565475355
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.1522C>T (p.Arg508Ter) rs137852634
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550
NM_001038.6(SCNN1A):c.1685C>T (p.Ser562Leu) rs137852635
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) rs775290860
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)
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.648G>A (p.Gln216=) rs780536807
NM_001038.6(SCNN1A):c.684+9C>T rs111317117
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) rs768767909
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335
NM_001038.6(SCNN1A):c.876-13C>T rs201235216
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) rs886049759
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619
SCNN1A, 1-BP DEL, 1449C
SCNN1A, 1-BP DEL, 729A
SCNN1A, 2-BP DEL, FS144TER

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