ClinVar Miner

List of variants reported as benign for Hypokalemic periodic paralysis, type 1 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
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_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383 0.32034
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_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149 0.11390
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497 0.10778
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_000069.3(CACNA1S):c.2746-14C>T rs113792034 0.03828
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
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_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_000069.3(CACNA1S):c.-83C>T rs116071603 0.01915
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942 0.01893
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434 0.01603
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_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
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_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_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
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_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_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
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_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 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_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_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_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664 0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336 0.00009
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_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_000069.3(CACNA1S):c.297T>A (p.Ile99=) rs202132932 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_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_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_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.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614

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