ClinVar Miner

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

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787 0.00004
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter) rs1303215579 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys) rs750637537 0.00001
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NC_000001.10:g.(?_201012389)_(201013604_?)del
NC_000001.11:g.201044429_201044459del
NM_000069.3(CACNA1S):c.1087del (p.Leu363fs) rs2102154885
NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)
NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter)
NM_000069.3(CACNA1S):c.1271del (p.Lys424fs)
NM_000069.3(CACNA1S):c.1274del (p.Cys425fs) rs2102151799
NM_000069.3(CACNA1S):c.1366C>T (p.Gln456Ter)
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) rs762294904
NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) rs1558071742
NM_000069.3(CACNA1S):c.1840del (p.Glu614fs)
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter) rs374950276
NM_000069.3(CACNA1S):c.2324_2330del (p.Glu775fs) rs2102132473
NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) rs1287079817
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr) rs1287079817
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser)
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2965del (p.Glu989fs)
NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter) rs1572035834
NM_000069.3(CACNA1S):c.3018_3021del (p.Leu1007fs)
NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs) rs1661065356
NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter)
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000069.3(CACNA1S):c.3472_3473del (p.Thr1158fs)
NM_000069.3(CACNA1S):c.3567del (p.Ile1189fs)
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.3760C>T (p.Arg1254Ter)
NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter) rs1660729290
NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)
NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter) rs563795648
NM_000069.3(CACNA1S):c.4172G>A (p.Trp1391Ter)
NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter) rs761239255
NM_000069.3(CACNA1S):c.4184del (p.Gly1395fs)
NM_000069.3(CACNA1S):c.4210del (p.Ala1404fs) rs2102557481
NM_000069.3(CACNA1S):c.436del (p.Gln146fs) rs2102164740
NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)
NM_000069.3(CACNA1S):c.4819C>T (p.Gln1607Ter)
NM_000069.3(CACNA1S):c.4834del (p.Leu1612fs) rs2102547896
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs) rs761214441
NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs) rs1572019465
NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) rs772130841
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter)
NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter) rs1434902604
NM_000069.3(CACNA1S):c.564del (p.Ile189fs) rs1553252746
NM_000069.3(CACNA1S):c.574_575del (p.Ala192fs)
NM_000069.3(CACNA1S):c.629dup (p.Tyr210Ter)
NM_000069.3(CACNA1S):c.732del (p.Cys245fs) rs1558079311
NM_000069.3(CACNA1S):c.78del (p.Arg26fs) rs2102193989
NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter)
NM_000069.3(CACNA1S):c.85del (p.Arg29fs) rs2102193959
NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter) rs1572059904

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