ClinVar Miner

List of variants in gene SCN8A reported by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.2167T>G (p.Trp723Gly)
NM_001330260.2(SCN8A):c.2225T>C (p.Leu742Pro)
NM_001330260.2(SCN8A):c.2234T>C (p.Ile745Thr) rs1942593819
NM_001330260.2(SCN8A):c.2531G>A (p.Arg844Gln) rs1476532344
NM_001330260.2(SCN8A):c.4017dup (p.Ile1340fs)
NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys) rs2138909536
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr) rs1938214529
NM_001330260.2(SCN8A):c.5375G>A (p.Trp1792Ter) rs1938715548

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