ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as likely pathogenic for not provided

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Total variants: 10
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HGVS dbSNP
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter)
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.3901_3903delCAG (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243

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