ClinVar Miner

List of variants reported as likely benign for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00016
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
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.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 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.3525+7del rs759199210 0.00009
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
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.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.4669-11G>A rs376672151 0.00006
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.2667C>T (p.Ala889=) rs188071541 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.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315 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.3890G>A (p.Gly1297Glu) rs749856222 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.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.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.708G>C (p.Thr236=) rs754213830 0.00002
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.2922G>A (p.Val974=) rs377715551 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.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.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.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
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.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.542-9C>T rs767627454

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