ClinVar Miner

List of variants in gene SCN11A studied for Charcot-Marie-Tooth disease

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Total variants: 8
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HGVS dbSNP
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) rs150269814
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) rs141228634
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp) rs146174311
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) rs145734191
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro) rs1373209779
NM_001349253.2(SCN11A):c.4057-1G>A rs1575205608
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg) rs1553630322
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) rs201107889

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