ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported by Gharavi Laboratory,Columbia University

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Total variants: 6
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HGVS dbSNP
NM_000334.4(SCN4A):c.2254C>T (p.Leu752Phe) rs1567823019
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile) rs1567817375
NM_000334.4(SCN4A):c.3992C>T (p.Pro1331Leu) rs1567817335
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866
NM_000334.4(SCN4A):c.4784C>T (p.Ala1595Val) rs1567816203
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg) rs1567815888

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