ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by Athena Diagnostics

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) rs886039668
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs) rs1600293149
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs)
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)
NM_001127222.2(CACNA1A):c.2734C>T (p.Gln912Ter) rs1555756161
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs)
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs) rs2057721188
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs) rs1555753042
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs) rs1568493323
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.41del (p.Gly14fs) rs1555797179
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter) rs1600180457
NM_001127222.2(CACNA1A):c.4950+3662G>T rs1600152215
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) rs2144936148
NM_001127222.2(CACNA1A):c.5529-1231C>T rs1296262946
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter) rs1355062450

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