ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia type 29 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)	rs2124927471
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)	rs397514536
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)	rs397514535

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