ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
Download table as spreadsheet
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_000001.10:g.(?_201041873)_(201045757_?)del
NC_000001.10:g.(?_201063001)_(201066352_?)del
NC_000001.10:g.(?_201079272)_(201081467_?)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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.