ClinVar Miner

List of variants studied for Hyperkalemic periodic paralysis by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000334.4(SCN4A):c.*710T>C rs2532111 0.67728
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_000334.4(SCN4A):c.*563G>A rs2532112 0.08626
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_000334.4(SCN4A):c.*1611A>G rs16947280 0.02126
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_000334.4(SCN4A):c.*1088A>G rs77725962 0.00759
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172 0.00509
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736 0.00506
NM_000334.4(SCN4A):c.*129G>T rs140026321 0.00401
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_000334.4(SCN4A):c.*1324T>C rs544883913 0.00256
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00124
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
NM_000334.4(SCN4A):c.*2170G>A rs569759069 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.*2150C>A rs182791237 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000334.4(SCN4A):c.*2072G>A rs192346663 0.00099
NM_000334.4(SCN4A):c.*64G>A rs753971558 0.00080
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115 0.00056
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
NM_000334.4(SCN4A):c.*2085C>G rs756262968 0.00042
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
NM_000334.4(SCN4A):c.*1069G>A rs368616841 0.00035
NM_000334.4(SCN4A):c.*780G>T rs562146322 0.00034
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000334.4(SCN4A):c.*755G>A rs886053243 0.00025
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 0.00019
NM_000334.4(SCN4A):c.*304G>A rs545908155 0.00017
NM_000334.4(SCN4A):c.*86G>T rs566876110 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000334.4(SCN4A):c.*1887A>G rs749866237 0.00012
NM_000334.4(SCN4A):c.*1108C>G rs773016576 0.00011
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) rs149907018 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.*1253G>A rs886053240 0.00010
NM_000334.4(SCN4A):c.-33C>T rs575313119 0.00010
NM_000334.4(SCN4A):c.1100+15G>A rs533321924 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.*1916C>T rs139537251 0.00009
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.*1313G>A rs761821168 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000334.4(SCN4A):c.*1057C>T rs886053242 0.00006
NM_000334.4(SCN4A):c.*2211C>T rs886053237 0.00006
NM_000334.4(SCN4A):c.-4G>A rs565414568 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 0.00006
NM_000334.4(SCN4A):c.45G>A (p.Glu15=) rs763166498 0.00006
NM_000334.4(SCN4A):c.*1572T>G rs771871843 0.00005
NM_000334.4(SCN4A):c.*754T>C rs574113483 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.*1172G>A rs540304010 0.00004
NM_000334.4(SCN4A):c.-74G>A rs546675124 0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) rs527384137 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000334.4(SCN4A):c.*394A>C rs886053244 0.00003
NM_000334.4(SCN4A):c.*670T>G rs148552329 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000334.4(SCN4A):c.-23G>T rs747406998 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.*1218G>A rs908902727 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) rs376538198 0.00001
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=) rs753779301 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=) rs560230431 0.00001
NM_000334.4(SCN4A):c.*1205C>G rs886053241
NM_000334.4(SCN4A):c.*1345A>G rs1908450197
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3] rs112489358
NM_000334.4(SCN4A):c.*1497C>T rs1908443762
NM_000334.4(SCN4A):c.*1505G>T rs1908443410
NM_000334.4(SCN4A):c.*1599A>G rs1908440330
NM_000334.4(SCN4A):c.*1679TG[7] rs66908473
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*203T>G rs1908484940
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.*981G>A rs144800677
NM_000334.4(SCN4A):c.-67G>A rs191783461
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) rs749394640
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg) rs753391449
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) rs373819078
NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) rs886053248
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) rs1908916464
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3249A>G (p.Lys1083=) rs1597971116
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) rs377620351
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) rs1908587972
NM_000334.4(SCN4A):c.428C>A (p.Thr143Asn) rs1909633732
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr) rs1909617747
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.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.5372G>T (p.Ser1791Ile) rs1908500124
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226

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