ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for Episodic ataxia type 2

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00007
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His) rs1417890059 0.00002
NM_001127222.2(CACNA1A):c.2899G>A (p.Glu967Lys) rs1555755929 0.00001
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala) rs773766180 0.00001
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His) rs1057521547 0.00001
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp) rs2145132791
NM_001127222.2(CACNA1A):c.1198+4A>G rs2513048798
NM_001127222.2(CACNA1A):c.182T>C (p.Leu61Pro) rs2513709063
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) rs2057841267
NM_001127222.2(CACNA1A):c.2077T>A (p.Phe693Ile) rs2057841232
NM_001127222.2(CACNA1A):c.2180A>G (p.Gln727Arg) rs1369936534
NM_001127222.2(CACNA1A):c.2293A>G (p.Lys765Glu) rs2512911230
NM_001127222.2(CACNA1A):c.3070C>T (p.Arg1024Trp)
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.3407C>T (p.Pro1136Leu) rs2512856666
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu) rs201789073
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.368A>T (p.Asp123Val) rs1555789420
NM_001127222.2(CACNA1A):c.3731A>G (p.Tyr1244Cys) rs1164174661
NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr) rs2512840644
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4807G>T (p.Val1603Phe) rs943715197
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5133+5G>A rs2144647781
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln) rs781588570
NM_001127222.2(CACNA1A):c.607C>G (p.Leu203Val) rs2144559245
NM_001127222.2(CACNA1A):c.6128G>T (p.Gly2043Val) rs765421252
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln) rs775606907
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His) rs16052
NM_001127222.2(CACNA1A):c.673C>T (p.Pro225Ser) rs2513175641
NM_001127222.2(CACNA1A):c.6881G>C (p.Arg2294Pro)
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln) rs1199275549
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757

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