ClinVar Miner

List of variants in gene VPS13D studied for autosomal recessive syndromic cerebellar ataxia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.8658A>C (p.Pro2886=) rs28551666 0.78408
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu) rs12407578 0.00280
NM_015378.4(VPS13D):c.5334T>A (p.Ser1778Arg) rs144311414 0.00133
NM_015378.4(VPS13D):c.1114G>A (p.Glu372Lys) rs76782506 0.00112
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.628G>A (p.Asp210Asn) rs145337192 0.00009
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.941+3A>G rs372431023 0.00002
NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val) rs746736545 0.00001
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.946C>T (p.Arg316Ter) rs758368974 0.00001
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.10270C>T (p.Gln3424Ter) rs2101615505
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val) rs772644485
NM_015378.4(VPS13D):c.1055dup (p.Tyr352Ter)
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter) rs752359125
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu) rs1644798894
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
NM_015378.4(VPS13D):c.12350C>G (p.Ser4117Ter) rs1645321968
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.12683G>A (p.Arg4228Gln) rs1557478316
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu) rs779850187
NM_015378.4(VPS13D):c.12846A>C (p.Lys4282Asn)
NM_015378.4(VPS13D):c.1868A>G (p.Glu623Gly)
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter) rs756025227
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.3316C>T (p.Gln1106Ter) rs1557680710
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met) rs1436479178
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp) rs1557680919
NM_015378.4(VPS13D):c.3675G>C (p.Leu1225Phe)
NM_015378.4(VPS13D):c.4451-16A>G rs768036528
NM_015378.4(VPS13D):c.5075G>A (p.Arg1692Gln)
NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg) rs779567569
NM_015378.4(VPS13D):c.5409C>A (p.Tyr1803Ter) rs1557684974
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
NM_015378.4(VPS13D):c.5725+2dup
NM_015378.4(VPS13D):c.5753T>C (p.Ile1918Thr)
NM_015378.4(VPS13D):c.5802A>C (p.Arg1934Ser)
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.7334_7335del (p.Val2445fs) rs1557705968
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.8983C>T (p.Arg2995Ter) rs202180923
NM_015378.4(VPS13D):c.9755T>G (p.Met3252Arg)
NM_015378.4(VPS13D):c.9871+2T>C

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