ClinVar Miner

List of variants reported as likely pathogenic for Spinocerebellar ataxia type 29 by Genomics England Pilot Project, Genomics England

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	rs1553757628
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)	rs752281590

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