ClinVar Miner

List of variants reported as likely benign for Thyrotoxic periodic paralysis, susceptibility to, 1

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ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
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.4668+19T>C rs140742077 0.00573
NM_000069.3(CACNA1S):c.-68T>C rs140748567 0.00558
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000069.3(CACNA1S):c.-60A>G rs145803564 0.00349
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.3795+3G>A rs191758096 0.00113
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
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.345C>T (p.Asp115=) rs144218745 0.00054
NM_000069.3(CACNA1S):c.4339-14G>A rs200570483 0.00051
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669 0.00031
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582 0.00026
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883 0.00025
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111 0.00023
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601 0.00022
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115 0.00021
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035 0.00015
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748 0.00013
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) rs368173398 0.00013
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) rs771865391 0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.900+17G>A rs373839474 0.00011
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107 0.00010
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779 0.00010
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667 0.00010
NM_000069.3(CACNA1S):c.1151-18T>C rs112628416 0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336 0.00009
NM_000069.3(CACNA1S):c.3525+7del rs759199210 0.00009
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102 0.00009
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile) rs572977674 0.00007
NM_000069.3(CACNA1S):c.1619+9C>T rs372942667 0.00007
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) rs373033092 0.00007
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) rs751405561 0.00007
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886 0.00006
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664 0.00006
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=) rs201748367 0.00006
NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=) rs61734612 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) rs200893062 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=) rs202132932 0.00004
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108 0.00004
NM_000069.3(CACNA1S):c.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) rs748352939 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770 0.00003
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315 0.00003
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845 0.00003
NM_000069.3(CACNA1S):c.3610-17G>A rs368357562 0.00003
NM_000069.3(CACNA1S):c.3667-5C>T rs368885124 0.00003
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) rs138167275 0.00003
NM_000069.3(CACNA1S):c.4543+15G>A rs746717103 0.00003
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) rs746654928 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) rs1051111849 0.00002
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=) rs763639897 0.00002
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) rs754689047 0.00002
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00002
NM_000069.3(CACNA1S):c.1619+15C>T rs771698501 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val) rs185777948 0.00002
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) rs113659687 0.00002
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val) rs764821044 0.00002
NM_000069.3(CACNA1S):c.259-14G>A rs762197754 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2854-15T>G rs1405252446 0.00002
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=) rs745738564 0.00002
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548 0.00002
NM_000069.3(CACNA1S):c.3610-18C>T rs747616430 0.00002
NM_000069.3(CACNA1S):c.4242-5C>T rs749316339 0.00002
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700 0.00002
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271 0.00001
NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=) rs774899299 0.00001
NM_000069.3(CACNA1S):c.2658-10C>T rs760659248 0.00001
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) rs376393159 0.00001
NM_000069.3(CACNA1S):c.2854-6C>T rs1033462438 0.00001
NM_000069.3(CACNA1S):c.2907-16G>A rs756591873 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=) rs374912997 0.00001
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) rs1453821550 0.00001
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) rs774191804 0.00001
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=) rs773738696 0.00001
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596 0.00001
NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=) rs748525277 0.00001
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) rs1262731998 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.4242-4G>A rs780264366 0.00001
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=) rs757017761 0.00001
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala) rs74642988 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 0.00001
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223 0.00001
NM_000069.3(CACNA1S):c.541+18T>A rs760602154 0.00001
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598 0.00001
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg) rs771569004 0.00001
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979 0.00001
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=) rs763965450
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) rs775975526
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1948+10C>T rs201173419
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=) rs1057524226
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=) rs770064983
NM_000069.3(CACNA1S):c.2854-33CCTC[6] rs747117832
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.4669-6C>T
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.542-9C>T rs767627454
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=) rs756090938
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614

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