List of variants in gene VPS13D reported as uncertain significance for cerebellar ataxia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu)	rs12407578	0.00280
NM_015378.4(VPS13D):c.1414+5G>A	rs190463258	0.00110
NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala)	rs146488112	0.00073
NM_015378.4(VPS13D):c.11459A>T (p.Asn3820Ile)	rs142270656	0.00043
NM_015378.4(VPS13D):c.6595A>G (p.Ser2199Gly)	rs545160328	0.00018
NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg)	rs146589155	0.00009
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr)	rs148356821	0.00006
NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser)	rs776251343	0.00005
NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr)	rs146889077	0.00005
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln)	rs756615407	0.00005
NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val)	rs966474941	0.00004
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln)	rs769010867	0.00003
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp)	rs775767366	0.00001
NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His)	rs180883554	0.00001
NM_015378.4(VPS13D):c.9196C>A (p.Leu3066Met)	rs201819449	0.00001
NM_015378.4(VPS13D):c.9304C>G (p.Pro3102Ala)	rs1465369949	0.00001
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val)	rs772644485
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu)	rs1644798894
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
NM_015378.4(VPS13D):c.12846A>C (p.Lys4282Asn)
NM_015378.4(VPS13D):c.1868A>G (p.Glu623Gly)
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser)	rs151332868
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met)	rs1436479178
NM_015378.4(VPS13D):c.4451-16A>G	rs768036528
NM_015378.4(VPS13D):c.5075G>A (p.Arg1692Gln)
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg)	rs779567569
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu)	rs201376188
NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg)	rs868755481
NM_015378.4(VPS13D):c.8419G>A (p.Val2807Met)	rs1232333514
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu)	rs750000898
NM_015378.4(VPS13D):c.9755T>G (p.Met3252Arg)

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