ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as likely benign for Congenital Myasthenic Syndrome, Recessive

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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_000334.4(SCN4A):c.*1088A>G rs77725962
NM_000334.4(SCN4A):c.*1172G>A rs540304010
NM_000334.4(SCN4A):c.*1215G>A rs112758825
NM_000334.4(SCN4A):c.*129G>T rs140026321
NM_000334.4(SCN4A):c.*1324T>C rs544883913
NM_000334.4(SCN4A):c.*1368G>C rs113385942
NM_000334.4(SCN4A):c.*1611A>G rs16947280
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581
NM_000334.4(SCN4A):c.*1828A>G rs79003915
NM_000334.4(SCN4A):c.*1916C>T rs139537251
NM_000334.4(SCN4A):c.*1989C>T rs77615646
NM_000334.4(SCN4A):c.*2072G>A rs192346663
NM_000334.4(SCN4A):c.*2150C>A rs182791237
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*304G>A rs545908155
NM_000334.4(SCN4A):c.*332C>T rs77962116
NM_000334.4(SCN4A):c.*670T>G rs148552329
NM_000334.4(SCN4A):c.*86G>T rs566876110
NM_000334.4(SCN4A):c.*873G>C rs540759411
NM_000334.4(SCN4A):c.*981G>A rs144800677
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905
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.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3441+7G>A rs142270113
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531
NM_000334.4(SCN4A):c.3720+10A>G rs111679484
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170
NM_000334.4(SCN4A):c.4017+15G>T rs77844100
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454

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