ClinVar Miner

List of variants in gene CACNA2D1 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000722.4(CACNA2D1):c.532A>G (p.Ile178Val) rs80063198 0.00016
NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His) rs141238313 0.00011
NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His) rs375189396 0.00010
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu) rs201682618 0.00009
NM_000722.4(CACNA2D1):c.1375G>C (p.Val459Leu) rs765696205 0.00009
NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu) rs202108848 0.00008
NM_000722.4(CACNA2D1):c.1086G>A (p.Thr362=) rs148592476 0.00006
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr) rs146250893 0.00006
NM_000722.4(CACNA2D1):c.2791C>G (p.Gln931Glu) rs145110338 0.00005
NM_000722.4(CACNA2D1):c.2861C>T (p.Thr954Met) rs111888027 0.00005
NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn) rs776720930 0.00005
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu) rs756707031 0.00004
NM_000722.4(CACNA2D1):c.1178A>G (p.Asn393Ser) rs149828018 0.00004
NM_000722.4(CACNA2D1):c.2324C>A (p.Ala775Asp) rs768768419 0.00004
NM_000722.4(CACNA2D1):c.2717C>T (p.Ser906Leu) rs1015793463 0.00004
NM_000722.4(CACNA2D1):c.3060A>G (p.Ile1020Met) rs748581194 0.00004
NM_000722.4(CACNA2D1):c.741A>T (p.Gly247=) rs372164615 0.00004
NM_000722.4(CACNA2D1):c.1076T>C (p.Met359Thr) rs1348576976 0.00003
NM_000722.4(CACNA2D1):c.688C>T (p.Pro230Ser) rs1461155317 0.00002
NM_000722.4(CACNA2D1):c.1077G>A (p.Met359Ile) rs1388726184 0.00001
NM_000722.4(CACNA2D1):c.149C>T (p.Thr50Ile) rs1477267428 0.00001
NM_000722.4(CACNA2D1):c.1526A>G (p.Asn509Ser) rs1386287681 0.00001
NM_000722.4(CACNA2D1):c.1772C>T (p.Thr591Ile) rs773781850 0.00001
NM_000722.4(CACNA2D1):c.1919A>G (p.Asn640Ser) rs760733417 0.00001
NM_000722.4(CACNA2D1):c.1924G>C (p.Glu642Gln) rs775481386 0.00001
NM_000722.4(CACNA2D1):c.1990A>T (p.Asn664Tyr) rs777463785 0.00001
NM_000722.4(CACNA2D1):c.2683G>A (p.Gly895Ser) rs772889955 0.00001
NM_000722.4(CACNA2D1):c.2720C>T (p.Ala907Val) rs1214105842 0.00001
NM_000722.4(CACNA2D1):c.2867C>A (p.Ser956Tyr) rs768081623 0.00001
NM_000722.4(CACNA2D1):c.435A>G (p.Ile145Met) rs756765026 0.00001
NM_000722.4(CACNA2D1):c.68C>T (p.Ser23Leu) rs532261094 0.00001
NM_000722.4(CACNA2D1):c.735C>T (p.Ile245=) rs1281680153 0.00001
NM_000722.4(CACNA2D1):c.810A>C (p.Lys270Asn) rs779135778 0.00001
NM_000722.4(CACNA2D1):c.1058A>C (p.Asn353Thr)
NM_000722.4(CACNA2D1):c.1059C>G (p.Asn353Lys)
NM_000722.4(CACNA2D1):c.1144G>A (p.Val382Ile)
NM_000722.4(CACNA2D1):c.1187G>C (p.Arg396Thr)
NM_000722.4(CACNA2D1):c.118A>G (p.Met40Val)
NM_000722.4(CACNA2D1):c.1195A>G (p.Ile399Val)
NM_000722.4(CACNA2D1):c.1231T>C (p.Tyr411His)
NM_000722.4(CACNA2D1):c.1259G>A (p.Arg420Lys) rs886039110
NM_000722.4(CACNA2D1):c.1300A>G (p.Met434Val)
NM_000722.4(CACNA2D1):c.130C>G (p.Leu44Val)
NM_000722.4(CACNA2D1):c.134T>C (p.Val45Ala)
NM_000722.4(CACNA2D1):c.1364A>G (p.Glu455Gly)
NM_000722.4(CACNA2D1):c.1427A>G (p.Lys476Arg)
NM_000722.4(CACNA2D1):c.1459G>T (p.Val487Leu)
NM_000722.4(CACNA2D1):c.1474G>C (p.Val492Leu)
NM_000722.4(CACNA2D1):c.1507C>T (p.Arg503Cys)
NM_000722.4(CACNA2D1):c.1508G>C (p.Arg503Pro)
NM_000722.4(CACNA2D1):c.1576A>G (p.Asn526Asp)
NM_000722.4(CACNA2D1):c.1726C>G (p.Gln576Glu)
NM_000722.4(CACNA2D1):c.1735-5T>C
NM_000722.4(CACNA2D1):c.173T>C (p.Val58Ala)
NM_000722.4(CACNA2D1):c.178A>G (p.Ile60Val)
NM_000722.4(CACNA2D1):c.1832A>G (p.Tyr611Cys)
NM_000722.4(CACNA2D1):c.1841C>T (p.Ala614Val)
NM_000722.4(CACNA2D1):c.1853A>G (p.Glu618Gly)
NM_000722.4(CACNA2D1):c.1873+1G>C
NM_000722.4(CACNA2D1):c.1879_1881del (p.Lys627del)
NM_000722.4(CACNA2D1):c.1882G>A (p.Gly628Ser)
NM_000722.4(CACNA2D1):c.1897T>C (p.Ser633Pro)
NM_000722.4(CACNA2D1):c.2017G>A (p.Glu673Lys)
NM_000722.4(CACNA2D1):c.2033A>G (p.Lys678Arg)
NM_000722.4(CACNA2D1):c.2133G>T (p.Gln711His)
NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met) rs745501384
NM_000722.4(CACNA2D1):c.214C>A (p.Pro72Thr)
NM_000722.4(CACNA2D1):c.215C>T (p.Pro72Leu)
NM_000722.4(CACNA2D1):c.2164G>A (p.Val722Ile)
NM_000722.4(CACNA2D1):c.2185A>G (p.Thr729Ala)
NM_000722.4(CACNA2D1):c.218A>G (p.Asn73Ser)
NM_000722.4(CACNA2D1):c.226C>T (p.Arg76Cys)
NM_000722.4(CACNA2D1):c.2275G>A (p.Asp759Asn)
NM_000722.4(CACNA2D1):c.2297C>G (p.Pro766Arg)
NM_000722.4(CACNA2D1):c.2318C>T (p.Pro773Leu) rs772938422
NM_000722.4(CACNA2D1):c.2332T>G (p.Ser778Ala)
NM_000722.4(CACNA2D1):c.2503-5G>T rs2130336971
NM_000722.4(CACNA2D1):c.2572C>T (p.Gln858Ter)
NM_000722.4(CACNA2D1):c.257T>C (p.Ile86Thr)
NM_000722.4(CACNA2D1):c.2642C>G (p.Ala881Gly)
NM_000722.4(CACNA2D1):c.2652A>C (p.Lys884Asn)
NM_000722.4(CACNA2D1):c.2686G>A (p.Ala896Thr)
NM_000722.4(CACNA2D1):c.2713C>T (p.Arg905Cys)
NM_000722.4(CACNA2D1):c.2714G>A (p.Arg905His)
NM_000722.4(CACNA2D1):c.2728C>A (p.Pro910Thr)
NM_000722.4(CACNA2D1):c.2738C>T (p.Ala913Val)
NM_000722.4(CACNA2D1):c.2740G>A (p.Asp914Asn) rs377181609
NM_000722.4(CACNA2D1):c.2800C>T (p.Leu934Phe)
NM_000722.4(CACNA2D1):c.2857T>C (p.Phe953Leu)
NM_000722.4(CACNA2D1):c.2861C>G (p.Thr954Arg)
NM_000722.4(CACNA2D1):c.2891C>A (p.Thr964Asn)
NM_000722.4(CACNA2D1):c.2920G>A (p.Asp974Asn)
NM_000722.4(CACNA2D1):c.2923A>G (p.Ser975Gly)
NM_000722.4(CACNA2D1):c.295C>T (p.Arg99Cys)
NM_000722.4(CACNA2D1):c.2965A>C (p.Arg989=)
NM_000722.4(CACNA2D1):c.2967-3C>A
NM_000722.4(CACNA2D1):c.2992A>G (p.Asn998Asp)
NM_000722.4(CACNA2D1):c.3059T>C (p.Ile1020Thr)
NM_000722.4(CACNA2D1):c.3065C>T (p.Ala1022Val)
NM_000722.4(CACNA2D1):c.3077-4_3077-3del rs773360358
NM_000722.4(CACNA2D1):c.3122G>A (p.Arg1041Gln)
NM_000722.4(CACNA2D1):c.3140_3157dup (p.Val1052_Leu1053insCysPheAspAsnAsnVal)
NM_000722.4(CACNA2D1):c.3170C>G (p.Thr1057Ser) rs2129932628
NM_000722.4(CACNA2D1):c.3185T>G (p.Val1062Gly)
NM_000722.4(CACNA2D1):c.3211T>C (p.Tyr1071His) rs2129931750
NM_000722.4(CACNA2D1):c.3235C>G (p.Leu1079Val) rs780771206
NM_000722.4(CACNA2D1):c.3253G>A (p.Gly1085Ser)
NM_000722.4(CACNA2D1):c.3254G>A (p.Gly1085Asp)
NM_000722.4(CACNA2D1):c.3266G>A (p.Arg1089His) rs143631985
NM_000722.4(CACNA2D1):c.3266G>T (p.Arg1089Leu) rs143631985
NM_000722.4(CACNA2D1):c.3274T>C (p.Ter1092Arg)
NM_000722.4(CACNA2D1):c.35C>T (p.Thr12Ile)
NM_000722.4(CACNA2D1):c.362A>C (p.Glu121Ala)
NM_000722.4(CACNA2D1):c.397-4A>G rs917105846
NM_000722.4(CACNA2D1):c.400G>A (p.Glu134Lys)
NM_000722.4(CACNA2D1):c.415G>C (p.Glu139Gln) rs1554412653
NM_000722.4(CACNA2D1):c.449T>C (p.Ile150Thr)
NM_000722.4(CACNA2D1):c.469C>T (p.Arg157Ter)
NM_000722.4(CACNA2D1):c.475A>C (p.Ile159Leu)
NM_000722.4(CACNA2D1):c.482A>T (p.Tyr161Phe)
NM_000722.4(CACNA2D1):c.550A>G (p.Asn184Asp)
NM_000722.4(CACNA2D1):c.55A>G (p.Ile19Val)
NM_000722.4(CACNA2D1):c.585G>C (p.Lys195Asn) rs1035408693
NM_000722.4(CACNA2D1):c.612G>T (p.Leu204Phe)
NM_000722.4(CACNA2D1):c.658+3A>G
NM_000722.4(CACNA2D1):c.659-5T>C
NM_000722.4(CACNA2D1):c.915G>C (p.Gln305His)
NM_000722.4(CACNA2D1):c.95+3A>G

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