List of variants in gene VPS13D reported as 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val)	rs746736545	0.00001
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)	rs1557737087
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
NM_015378.4(VPS13D):c.12350C>G (p.Ser4117Ter)	rs1645321968
NM_015378.4(VPS13D):c.12683G>A (p.Arg4228Gln)	rs1557478316
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter)	rs756025227
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter)	rs1557680710
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)	rs1557680919
NM_015378.4(VPS13D):c.5409C>A (p.Tyr1803Ter)	rs1557684974
NM_015378.4(VPS13D):c.5725+2dup
NM_015378.4(VPS13D):c.7334_7335del (p.Val2445fs)	rs1557705968
NM_015378.4(VPS13D):c.9871+2T>C

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