ClinVar Miner

List of variants in gene SCN10A studied for Inborn genetic diseases

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.1141A>G (p.Ile381Val) rs150923753 0.00041
NM_006514.4(SCN10A):c.1762G>A (p.Asp588Asn) rs747486328 0.00004
NM_006514.4(SCN10A):c.619G>T (p.Asp207Tyr) rs1454410857 0.00004
NM_006514.4(SCN10A):c.4304T>C (p.Met1435Thr) rs759286277 0.00002
NM_006514.4(SCN10A):c.470+5G>A rs748885768 0.00001
NM_006514.4(SCN10A):c.4883G>T (p.Ser1628Ile) rs1279255819 0.00001
NM_006514.4(SCN10A):c.5249A>G (p.Lys1750Arg) rs145589241 0.00001
NM_006514.4(SCN10A):c.607G>A (p.Gly203Ser) rs774347834 0.00001
NM_006514.4(SCN10A):c.1264C>A (p.Leu422Ile)
NM_006514.4(SCN10A):c.145G>C (p.Glu49Gln)
NM_006514.4(SCN10A):c.1534C>G (p.Arg512Gly) rs200714519
NM_006514.4(SCN10A):c.1733C>T (p.Ala578Val) rs535115766
NM_006514.4(SCN10A):c.1765G>A (p.Ala589Thr)
NM_006514.4(SCN10A):c.1810C>G (p.Pro604Ala)
NM_006514.4(SCN10A):c.3574G>T (p.Val1192Phe)
NM_006514.4(SCN10A):c.3647A>G (p.Asn1216Ser)
NM_006514.4(SCN10A):c.3682A>C (p.Ile1228Leu)
NM_006514.4(SCN10A):c.3694A>G (p.Ser1232Gly)
NM_006514.4(SCN10A):c.3910G>A (p.Ala1304Thr) rs142173735
NM_006514.4(SCN10A):c.3911C>T (p.Ala1304Val)
NM_006514.4(SCN10A):c.4318A>G (p.Lys1440Glu)
NM_006514.4(SCN10A):c.443C>A (p.Thr148Asn)
NM_006514.4(SCN10A):c.4520T>C (p.Ile1507Thr)
NM_006514.4(SCN10A):c.4852A>C (p.Met1618Leu) rs1575917442
NM_006514.4(SCN10A):c.4910G>C (p.Gly1637Ala)
NM_006514.4(SCN10A):c.509T>C (p.Ile170Thr)
NM_006514.4(SCN10A):c.5378T>C (p.Val1793Ala)
NM_006514.4(SCN10A):c.5762A>T (p.Tyr1921Phe) rs778955408
NM_006514.4(SCN10A):c.787G>A (p.Val263Met)
NM_006514.4(SCN10A):c.899A>C (p.Asn300Thr)
NM_006514.4(SCN10A):c.958C>T (p.Pro320Ser)

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