List of variants in gene VPS13D reported as likely pathogenic for autosomal recessive syndromic 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_015378.4(VPS13D):c.941+3A>G	rs372431023	0.00002
NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter)	rs758368974	0.00001
NM_015378.4(VPS13D):c.10270C>T (p.Gln3424Ter)	rs2101615505
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)	rs1557737087
NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter)	rs752359125
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val)	rs868354311
NM_015378.4(VPS13D):c.12530G>A (p.Gly4177Asp)	rs1645392057
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu)	rs779850187
NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)
NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter)	rs202180923

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