ClinVar Miner

List of variants in gene VPS13C studied for Parkinson disease

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_020821.3(VPS13C):c.2921G>A (p.Arg974Lys) rs3784634 0.66808
NM_020821.3(VPS13C):c.7638+38C>T rs963024 0.61010
NM_020821.3(VPS13C):c.6038+16G>A rs9788670 0.56416
NM_020821.3(VPS13C):c.10338+34C>T rs12708469 0.54085
NM_020821.3(VPS13C):c.8738G>A (p.Ser2913Asn) rs10851704 0.54075
NM_020821.3(VPS13C):c.283+29A>G rs2414758 0.53243
NM_020821.3(VPS13C):c.3905A>G (p.Tyr1302Cys) rs2303405 0.05935
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=) rs115871350 0.00801
NM_020821.3(VPS13C):c.387C>T (p.Gly129=) rs139665824 0.00022
NM_020821.3(VPS13C):c.1126T>C (p.Tyr376His) rs373559813 0.00008
NM_020821.3(VPS13C):c.9172C>T (p.Arg3058Cys) rs114345245 0.00006
NM_020821.3(VPS13C):c.1409G>A (p.Arg470His) rs142155201 0.00005
NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met) rs547200034 0.00004
NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter) rs752457309 0.00002
NM_020821.3(VPS13C):c.6079A>G (p.Met2027Val) rs780548883 0.00002
NM_020821.3(VPS13C):c.8806C>T (p.Arg2936Ter) rs148074630 0.00001
NM_020821.3(VPS13C):c.9020G>A (p.Arg3007Gln) rs778287890 0.00001
NM_020821.3(VPS13C):c.10060G>T (p.Glu3354Ter) rs199723460
NM_020821.3(VPS13C):c.10414+1G>A
NM_020821.3(VPS13C):c.10576C>T (p.Arg3526Ter)
NM_020821.3(VPS13C):c.10786_10792del (p.Pro3596fs) rs2140867780
NM_020821.3(VPS13C):c.10863+1553C>T
NM_020821.3(VPS13C):c.1119G>A (p.Trp373Ter) rs2046893100
NM_020821.3(VPS13C):c.1193_1194del (p.Ile398fs)
NM_020821.3(VPS13C):c.1304C>T (p.Thr435Ile)
NM_020821.3(VPS13C):c.1483+1G>A rs2046226928
NM_020821.3(VPS13C):c.2408+1G>A
NM_020821.3(VPS13C):c.3329A>G (p.Gln1110Arg)
NM_020821.3(VPS13C):c.3331G>T (p.Gly1111Ter)
NM_020821.3(VPS13C):c.3849C>A (p.Tyr1283Ter)
NM_020821.3(VPS13C):c.385+1G>T
NM_020821.3(VPS13C):c.3908+2T>C
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) rs369100678
NM_020821.3(VPS13C):c.4760-44T>A rs113403713
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) rs869312811
NM_020821.3(VPS13C):c.5205G>T (p.Gln1735His)
NM_020821.3(VPS13C):c.5386G>C (p.Glu1796Gln)
NM_020821.3(VPS13C):c.5462T>A (p.Leu1821Ter)
NM_020821.3(VPS13C):c.5698C>T (p.Gln1900Ter)
NM_020821.3(VPS13C):c.5756-1G>T
NM_020821.3(VPS13C):c.5842_5843insATGA (p.Ile1948fs) rs2140234163
NM_020821.3(VPS13C):c.5843T>A (p.Ile1948Asn)
NM_020821.3(VPS13C):c.5868+1G>A
NM_020821.3(VPS13C):c.5971G>A (p.Val1991Ile)
NM_020821.3(VPS13C):c.6726del (p.Lys2242fs)
NM_020821.3(VPS13C):c.7199A>G (p.Asn2400Ser)
NM_020821.3(VPS13C):c.7721G>A (p.Arg2574Lys)
NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs) rs869320761
NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs) rs879253853
NM_020821.3(VPS13C):c.8315A>G (p.Tyr2772Cys)
NM_020821.3(VPS13C):c.8445+2T>G rs869312809
NM_020821.3(VPS13C):c.8845-10del rs35201581
NM_020821.3(VPS13C):c.9019C>T (p.Arg3007Ter)
NM_020821.3(VPS13C):c.9481G>T (p.Glu3161Ter)
NM_020821.3(VPS13C):c.9562C>T (p.Gln3188Ter)
NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter) rs869312810

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