ClinVar Miner

List of variants in gene CACNA1A, LOC130063717 studied for episodic ataxia type 2

Included ClinVar conditions (11):
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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln) rs779063280 0.00014
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys) rs758625682 0.00005
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val) rs755099305 0.00005
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp) rs759576380 0.00004
NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His) rs1057521565 0.00004
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln) rs773057074 0.00003
NM_001127222.2(CACNA1A):c.6780+8C>T rs774169958 0.00003
NM_001127222.2(CACNA1A):c.6780+9G>A rs763812565 0.00003
NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe) rs768312851 0.00002
NM_001127222.2(CACNA1A):c.6709C>T (p.Arg2237Trp) rs1415336869 0.00001
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln) rs753798870 0.00001
NM_001127222.2(CACNA1A):c.6732C>T (p.Arg2244=) rs1406247650 0.00001
NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His) rs1219651327 0.00001
NM_001127222.2(CACNA1A):c.6743C>T (p.Ser2248Leu) rs1274796380 0.00001
NM_001127222.2(CACNA1A):c.6747C>T (p.Pro2249=) rs747396290 0.00001
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=) rs375958273 0.00001
NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser) rs1433873178 0.00001
NM_001127222.2(CACNA1A):c.6757C>T (p.Arg2253Ter) rs1166102159 0.00001
NM_001127222.2(CACNA1A):c.6758G>A (p.Arg2253Gln) rs752950486 0.00001
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr) rs1057523197 0.00001
NM_001127222.2(CACNA1A):c.6776G>A (p.Arg2259Gln) rs201582095 0.00001
NM_001127222.2(CACNA1A):c.6780+7G>A rs2054677545 0.00001
NM_001127222.2(CACNA1A):c.6701_6711dup (p.Ala2238fs)
NM_001127222.2(CACNA1A):c.6710G>A (p.Arg2237Gln) rs765309213
NM_001127222.2(CACNA1A):c.6710G>T (p.Arg2237Leu) rs765309213
NM_001127222.2(CACNA1A):c.6710_6719del (p.Arg2237fs) rs1042488847
NM_001127222.2(CACNA1A):c.6712_6735dup (p.Trp2245_Ser2246insAlaArgAlaArgAspGlnArgTrp)
NM_001127222.2(CACNA1A):c.6714_6719dup (p.2238AR[3]) rs1042488847
NM_001127222.2(CACNA1A):c.6721C>G (p.Arg2241Gly)
NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp) rs760428308
NM_001127222.2(CACNA1A):c.6722G>C (p.Arg2241Pro)
NM_001127222.2(CACNA1A):c.6723G>C (p.Arg2241=)
NM_001127222.2(CACNA1A):c.6724G>A (p.Asp2242Asn) rs2054681171
NM_001127222.2(CACNA1A):c.6729G>C (p.Gln2243His) rs774078430
NM_001127222.2(CACNA1A):c.6729G>T (p.Gln2243His) rs774078430
NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys) rs1021438528
NM_001127222.2(CACNA1A):c.6732C>G (p.Arg2244=)
NM_001127222.2(CACNA1A):c.6735G>T (p.Trp2245Cys) rs2054680655
NM_001127222.2(CACNA1A):c.6739C>T (p.Arg2247Cys) rs1265035474
NM_001127222.2(CACNA1A):c.6752A>G (p.Glu2251Gly)
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys) rs1433873178
NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala)
NM_001127222.2(CACNA1A):c.6757C>G (p.Arg2253Gly)
NM_001127222.2(CACNA1A):c.6758G>T (p.Arg2253Leu) rs752950486
NM_001127222.2(CACNA1A):c.6766A>G (p.Met2256Val)
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=) rs753884600
NM_001127222.2(CACNA1A):c.6771G>T (p.Ala2257=) rs753884600
NM_001127222.2(CACNA1A):c.6773A>G (p.His2258Arg)
NM_001127222.2(CACNA1A):c.6775C>A (p.Arg2259=) rs750267834
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp) rs750267834
NM_001127222.2(CACNA1A):c.6776G>C (p.Arg2259Pro) rs201582095
NM_001127222.2(CACNA1A):c.6780+13_6780+14delinsTT rs2144500224
NM_001127222.2(CACNA1A):c.6780+19G>A
NM_001127222.2(CACNA1A):c.6780+3G>C rs1307510001
NM_001127222.2(CACNA1A):c.6780+8C>A rs774169958

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