ClinVar Miner

List of variants reported as benign for familial periodic paralysis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 248
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590 0.77496
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477 0.70571
NM_000334.4(SCN4A):c.*710T>C rs2532111 0.67728
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383 0.32034
NM_000069.2(CACNA1S):c.-231A>G rs4506487 0.28191
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714 0.24503
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527 0.24484
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169 0.24315
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476 0.23047
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170 0.22856
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905 0.19414
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_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149 0.11390
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497 0.10778
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674 0.09605
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625 0.08709
NM_000334.4(SCN4A):c.*563G>A rs2532112 0.08626
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000891.3(KCNJ2):c.*624G>A rs9302915 0.07098
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_000891.3(KCNJ2):c.*558C>T rs9302914 0.06842
NM_000891.3(KCNJ2):c.*136G>A rs73998781 0.06798
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_000891.3(KCNJ2):c.*1198A>G rs9895478 0.06787
NM_000891.3(KCNJ2):c.*1251C>T rs9894661 0.06785
NM_000891.3(KCNJ2):c.*1266C>T rs9894677 0.06783
NM_000891.3(KCNJ2):c.*832G>A rs10083831 0.06743
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_000069.3(CACNA1S):c.2746-14C>T rs113792034 0.03828
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623 0.02892
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669 0.02707
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512 0.02512
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000891.3(KCNJ2):c.*1596A>C rs117409545 0.02347
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_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000069.3(CACNA1S):c.-83C>T rs116071603 0.01915
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942 0.01893
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000891.3(KCNJ2):c.*3496T>C rs3815307 0.01760
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434 0.01603
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501 0.01237
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724 0.01059
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538 0.01045
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
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_000069.3(CACNA1S):c.2361-13C>T rs2182117 0.00658
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664 0.00657
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724 0.00615
NM_000069.3(CACNA1S):c.399-14C>T rs116534514 0.00590
NM_000069.3(CACNA1S):c.-68T>C rs140748567 0.00558
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
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_000069.3(CACNA1S):c.*310A>T rs190783634 0.00503
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718 0.00479
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324 0.00448
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000334.4(SCN4A):c.*129G>T rs140026321 0.00401
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000891.3(KCNJ2):c.*1350G>A rs116077770 0.00360
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_000891.3(KCNJ2):c.*79C>T rs55970278 0.00327
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_000891.3(KCNJ2):c.*3163T>A rs149224363 0.00248
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
NM_000891.3(KCNJ2):c.*3208A>G rs188533495 0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000891.3(KCNJ2):c.*2893C>T rs137870461 0.00231
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000891.3(KCNJ2):c.*732T>G rs150985434 0.00145
NM_000891.3(KCNJ2):c.*210A>T rs146282466 0.00140
NM_000891.3(KCNJ2):c.-314T>C rs566186294 0.00140
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000891.3(KCNJ2):c.*766C>T rs186842823 0.00130
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
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_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379 0.00061
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
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_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317 0.00055
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00054
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
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_000891.3(KCNJ2):c.*996C>T rs77958248 0.00035
NM_000891.3(KCNJ2):c.*1125G>A rs191729421 0.00033
NM_000891.3(KCNJ2):c.*35A>C rs72552029 0.00033
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525 0.00031
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 0.00026
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_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111 0.00023
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115 0.00021
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341 0.00021
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
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_000891.3(KCNJ2):c.*1465A>G rs183514608 0.00018
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_000891.3(KCNJ2):c.*108G>A rs188588568 0.00017
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750 0.00015
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.3415-13G>T rs755431424 0.00011
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639 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_000891.3(KCNJ2):c.-349C>A rs370696463 0.00011
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662 0.00010
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107 0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921 0.00010
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779 0.00010
NM_000334.4(SCN4A):c.-33C>T rs575313119 0.00010
NM_000334.4(SCN4A):c.1100+15G>A rs533321924 0.00010
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664 0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336 0.00009
NM_000334.4(SCN4A):c.*1916C>T rs139537251 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167 0.00008
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile) rs572977674 0.00007
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212 0.00007
NM_000069.3(CACNA1S):c.3796-14C>T rs377210987 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile) rs139860737 0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=) rs202132932 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.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val) rs185777948 0.00002
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val) rs764821044 0.00002
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His) rs545411173 0.00002
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548 0.00002
NM_000069.3(CACNA1S):c.702G>T (p.Val234=) rs752724350 0.00002
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala) rs74642988 0.00001
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353 0.00001
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337 0.00001
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg) rs771569004 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000891.3(KCNJ2):c.*572G>T rs566129544 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=) rs373712202
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3] rs112489358
NM_000334.4(SCN4A):c.*1679TG[7] rs66908473
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*981G>A rs144800677
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000891.3(KCNJ2):c.*1678dup rs145779709
NM_000891.3(KCNJ2):c.*640GTT[4] rs397705636
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140

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