ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by Ambry Genetics

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Total variants: 48
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HGVS dbSNP
NM_000068.4(CACNA1A):c.6659_6676del (p.His2220_His2225del) rs1453912866
NM_001127221.1(CACNA1A):c.*636G>T rs1239663368
NM_001127221.1(CACNA1A):c.294-4A>G rs1400044284
NM_001127221.1(CACNA1A):c.5944-2A>G rs1555731992
NM_001127222.2(CACNA1A):c.1059C>A (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.1121G>A (p.Arg374Gln) rs865831227
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384
NM_001127222.2(CACNA1A):c.1490C>G (p.Ala497Gly) rs1568528100
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn) rs185034915
NM_001127222.2(CACNA1A):c.1696A>C (p.Ile566Leu) rs1568519066
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu) rs1196111017
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963
NM_001127222.2(CACNA1A):c.2495_2497ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606
NM_001127222.2(CACNA1A):c.2633A>T (p.Asp878Val) rs1568508904
NM_001127222.2(CACNA1A):c.2891C>A (p.Pro964His) rs1161926847
NM_001127222.2(CACNA1A):c.3004A>G (p.Arg1002Gly) rs1175036875
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) rs187393245
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser) rs753077104
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser) rs201311000
NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg) rs746195332
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793
NM_001127222.2(CACNA1A):c.3724C>G (p.Leu1242Val) rs1275961783
NM_001127222.2(CACNA1A):c.3989C>T (p.Thr1330Ile) rs976060126
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr) rs1187916307
NM_001127222.2(CACNA1A):c.4579G>C (p.Glu1527Gln) rs1568468148
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met) rs1568465560
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser) rs1205866071
NM_001127222.2(CACNA1A):c.5891A>G (p.Tyr1964Cys) rs1555732391
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys) rs1266642291
NM_001127222.2(CACNA1A):c.6142G>A (p.Glu2048Lys) rs1568423655
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His) rs1174830824
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met) rs368183370
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro) rs772789381
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu) rs1336146310
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln) rs753798870
NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys) rs1021438528
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411

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