ClinVar Miner

List of variants in gene SCN8A reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1335G>A (p.Glu445=) rs576113589 0.00004
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro) rs753009673 0.00002
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys) rs1308021407
NM_001330260.2(SCN8A):c.1883G>A (p.Arg628His)
NM_001330260.2(SCN8A):c.2242T>C (p.Leu748=) rs2138838573
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4524+20T>G
NM_001330260.2(SCN8A):c.4887T>G (p.Arg1629=) rs774981346
NM_001330260.2(SCN8A):c.5306T>G (p.Phe1769Cys)

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