ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NM_000334.4(SCN4A):c.*1057C>T rs886053242
NM_000334.4(SCN4A):c.*1069G>A rs368616841
NM_000334.4(SCN4A):c.*1205C>G rs886053241
NM_000334.4(SCN4A):c.*1253G>A rs886053240
NM_000334.4(SCN4A):c.*1572T>G rs771871843
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1887A>G rs749866237
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*2211C>T rs886053237
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.*394A>C rs886053244
NM_000334.4(SCN4A):c.*755G>A rs886053243
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512
NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) rs886053248
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028
NM_000334.4(SCN4A):c.4289-4G>A rs750364111
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695
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.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866

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