ClinVar Miner

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

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Gene type:
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Total variants: 3
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NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243

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