ClinVar Miner

List of variants in gene SCNN1B reported by OMIM

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr) rs137852711 0.00014
NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser) rs72654338 0.00003
NM_000336.3(SCNN1B):c.1542+1G>A rs550424284 0.00002
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706 0.00001
NM_000336.3(SCNN1B):c.1615G>A (p.Glu539Lys) rs137852710 0.00001
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser) rs137852712 0.00001
NM_000336.3(SCNN1B):c.1271-1G>C
NM_000336.3(SCNN1B):c.1346+1G>A
NM_000336.3(SCNN1B):c.1543-2A>G rs1596894031
NM_000336.3(SCNN1B):c.1735_1766del (p.Ala579Leufs*4) rs2142050610
NM_000336.3(SCNN1B):c.1847C>G (p.Pro616Arg) rs387906402
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) rs387906402
NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser) rs137852708
NM_000336.3(SCNN1B):c.1858T>C (p.Tyr620His) rs137852707
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) rs137852709
NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)
SCNN1B, 1-BP INS, 592C

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