ClinVar Miner

List of variants in gene CACNA1G reported as uncertain significance for Spinocerebellar ataxia type 42

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979 0.00043
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro) rs527612343 0.00009
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) rs747028553 0.00008
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys) rs779077930 0.00006
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln) rs781240948 0.00002
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln) rs1295882768 0.00002
NM_018896.5(CACNA1G):c.1246T>C (p.Phe416Leu)
NM_018896.5(CACNA1G):c.1364C>T (p.Ser455Phe)
NM_018896.5(CACNA1G):c.1367G>T (p.Arg456Leu)
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr) rs750741896
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)
NM_018896.5(CACNA1G):c.2131C>T (p.Arg711Trp)
NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr)
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)
NM_018896.5(CACNA1G):c.265T>G (p.Leu89Val)
NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu) rs536992411
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter) rs2045220988
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly) rs781015006
NM_018896.5(CACNA1G):c.3629G>A (p.Arg1210Gln)
NM_018896.5(CACNA1G):c.3812G>A (p.Arg1271Gln)
NM_018896.5(CACNA1G):c.4016A>G (p.Gln1339Arg)
NM_018896.5(CACNA1G):c.4318G>A (p.Val1440Met)
NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly)
NM_018896.5(CACNA1G):c.4663C>G (p.Arg1555Gly)
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro) rs1555565684
NM_018896.5(CACNA1G):c.5126G>A (p.Arg1709His) rs758591579
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg) rs2050959815
NM_018896.5(CACNA1G):c.5238G>C (p.Leu1746=)
NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr) rs2144657245
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu) rs1567964995
NM_018896.5(CACNA1G):c.5705A>C (p.Asp1902Ala)
NM_018896.5(CACNA1G):c.5776C>T (p.Pro1926Ser)
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
NM_018896.5(CACNA1G):c.6368C>A (p.Ser2123Tyr) rs1264876481
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu) rs1192468690
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro) rs2053882218
NM_018896.5(CACNA1G):c.757G>A (p.Val253Met)
NM_018896.5(CACNA1G):c.865C>T (p.Arg289Cys)
NM_018896.5(CACNA1G):c.866G>A (p.Arg289His)

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