ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=) rs749942058
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881
NM_000334.4(SCN4A):c.4590C>T (p.Phe1530=) rs199824534

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