ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as likely benign for Paramyotonia congenita of von Eulenburg

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Total variants: 26
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HGVS dbSNP
NM_000334.4(SCN4A):c.*1324T>C rs544883913
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581
NM_000334.4(SCN4A):c.*670T>G rs148552329
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met)
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His)
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028
NM_000334.4(SCN4A):c.4289-4G>A rs750364111
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988

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