ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for Spinocerebellar ataxia type 6

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met) rs780098532 0.00002
NM_001127222.2(CACNA1A):c.3149T>C (p.Ile1050Thr) rs2057414053 0.00001
NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro) rs2145030753
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr) rs1568473283
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp) rs1275025158
NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu) rs2144646945
NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp) rs2144595194
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val) rs2059190094

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