List of variants in gene INPP5E reported as pathogenic for cerebellar ataxia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)	rs1588830568	0.00001
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	rs121918130
NM_019892.6(INPP5E):c.473del (p.Gly158fs)	rs779450345

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