ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia 44

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)	rs1554308513
NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs)	rs1554317158
NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)	rs1554274719

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