ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as pathogenic by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 15
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NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962

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