ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as pathogenic by GeneDx

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Gene type:
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Total variants: 16
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NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3781G>T (p.Glu1261Ter) rs752611838
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
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.4179_4180insCC (p.Ile1394fs) rs1064794596
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) rs121908545
NM_000334.4(SCN4A):c.4463T>C (p.Leu1488Pro) rs1057520846
NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile) rs886041805

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