ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance by Ambry Genetics

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Total variants: 11
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HGVS dbSNP
NM_014191.3(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_014191.3(SCN8A):c.1474C>T (p.Arg492Cys)
NM_014191.3(SCN8A):c.1577G>A (p.Arg526Lys)
NM_014191.3(SCN8A):c.1837A>G (p.Ser613Gly)
NM_014191.3(SCN8A):c.1855_1863delGGCTACAGC (p.Gly619_Ser621del) rs758276968
NM_014191.3(SCN8A):c.2493A>T (p.Glu831Asp)
NM_014191.3(SCN8A):c.2806G>A (p.Glu936Lys) rs1555225833
NM_014191.3(SCN8A):c.3448C>T (p.Gln1150Ter) rs1555226280
NM_014191.3(SCN8A):c.4754G>A (p.Trp1585Ter) rs1555229543
NM_014191.3(SCN8A):c.5656A>G (p.Ile1886Val)
NM_014191.3(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315

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