ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A studied for Paramyotonia congenita of von Eulenburg

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Gene type:
ClinVar version:
Total variants: 107
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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.*1088A>G rs77725962
NM_000334.4(SCN4A):c.*1172G>A rs540304010
NM_000334.4(SCN4A):c.*1205C>G rs886053241
NM_000334.4(SCN4A):c.*1215G>A rs112758825
NM_000334.4(SCN4A):c.*122G>A rs2228997
NM_000334.4(SCN4A):c.*1253G>A rs886053240
NM_000334.4(SCN4A):c.*1271T>A rs2727277
NM_000334.4(SCN4A):c.*129G>T rs140026321
NM_000334.4(SCN4A):c.*1324T>C rs544883913
NM_000334.4(SCN4A):c.*1357A>G rs113012761
NM_000334.4(SCN4A):c.*1368G>C rs113385942
NM_000334.4(SCN4A):c.*1384_*1393ATATATGTGT[3] rs112489358
NM_000334.4(SCN4A):c.*1427T>C rs2727278
NM_000334.4(SCN4A):c.*1572T>G rs771871843
NM_000334.4(SCN4A):c.*1611A>G rs16947280
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581
NM_000334.4(SCN4A):c.*1679_*1680TG[7] rs66908473
NM_000334.4(SCN4A):c.*1737A>G rs16947276
NM_000334.4(SCN4A):c.*1828A>G rs79003915
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.*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.*2211C>T rs886053237
NM_000334.4(SCN4A):c.*22A>G rs2228995
NM_000334.4(SCN4A):c.*304G>A rs545908155
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.*332C>T rs77962116
NM_000334.4(SCN4A):c.*394A>C rs886053244
NM_000334.4(SCN4A):c.*563G>A rs2532112
NM_000334.4(SCN4A):c.*670T>G rs148552329
NM_000334.4(SCN4A):c.*710T>C rs2532111
NM_000334.4(SCN4A):c.*755G>A rs886053243
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.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512
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.2576G>A (p.Gly859Glu) rs886053248
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.2626G>A (p.Glu876Lys) rs886053247
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
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.2862G>A (p.Pro954=) rs375375167
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3318+12C>A rs13341114
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913
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.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4017+15G>T rs77844100
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.4126A>G (p.Asn1376Asp) rs2058194
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4289-4G>A rs750364111
NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg) rs121908550
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu) rs121908554
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852
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.4711C>T (p.Pro1571Ser) rs772552529
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720
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.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906

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