ClinVar Miner

List of variants in gene SCNN1A reported as uncertain significance for autosomal recessive pseudohypoaldosteronism type 1

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001038.6(SCNN1A):c.*114G>A rs886049756
NM_001038.6(SCNN1A):c.*415C>T rs886049755
NM_001038.6(SCNN1A):c.*580A>C rs886049754
NM_001038.6(SCNN1A):c.*590C>G rs886049753
NM_001038.6(SCNN1A):c.*736T>G rs886049752
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) rs181065138
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.1451A>G (p.Tyr484Cys) rs1565475355
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.385G>A (p.Ala129Thr)
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) rs780536807
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.944A>G (p.Asn315Ser) rs886049759

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