ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.-4A>G rs200408018 0.00050
NM_000069.3(CACNA1S):c.*104T>C rs186777514 0.00041
NM_000069.3(CACNA1S):c.*163G>A rs200126670 0.00026
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.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748 0.00013
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) rs748711395 0.00009
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102 0.00009
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034 0.00009
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752 0.00007
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089 0.00006
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793 0.00005
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) rs763794604 0.00004
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121 0.00004
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=) rs374912997 0.00001
NM_000069.3(CACNA1S):c.3538G>A (p.Asp1180Asn) rs775845281 0.00001
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=) rs773738696 0.00001
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898

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