ClinVar Miner

List of variants in gene VPS13A reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_033305.3(VPS13A):c.8472-12C>T rs115077471 0.00651
NM_033305.3(VPS13A):c.6379-17T>G rs373072093 0.00604
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00487
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_033305.3(VPS13A):c.101-7T>C rs190684534 0.00338
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309 0.00030
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181 0.00026
NM_033305.3(VPS13A):c.516G>A (p.Pro172=) rs141109675 0.00026
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409 0.00014
NM_033305.3(VPS13A):c.5454T>C (p.Asp1818=) rs149575608 0.00010
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_033305.3(VPS13A):c.5613C>T (p.Phe1871=) rs139782359 0.00006
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=) rs191925614 0.00005
NM_033305.3(VPS13A):c.5037G>A (p.Thr1679=) rs369887529 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.1683A>G (p.Ala561=) rs777028557 0.00001
NM_033305.3(VPS13A):c.1968T>A (p.Ile656=) rs918529816 0.00001
NM_033305.3(VPS13A):c.24G>A (p.Val8=) rs143617269 0.00001
NM_033305.3(VPS13A):c.5790A>C (p.Ala1930=) rs148449443 0.00001
NM_033305.3(VPS13A):c.6291T>C (p.Asp2097=) rs531944097 0.00001
NM_033305.3(VPS13A):c.64T>C (p.Leu22=) rs1360245833 0.00001
NM_033305.3(VPS13A):c.7288A>C (p.Ser2430Arg) rs780622922 0.00001
NM_033305.3(VPS13A):c.7690G>A (p.Ala2564Thr) rs1002740657 0.00001
NM_033305.3(VPS13A):c.*274AGA[1] rs147672353
NM_033305.3(VPS13A):c.1012G>T (p.Val338Phe)
NM_033305.3(VPS13A):c.1923A>G (p.Thr641=)
NM_033305.3(VPS13A):c.2051G>C (p.Ser684Thr)
NM_033305.3(VPS13A):c.2500G>C (p.Val834Leu) rs201567434
NM_033305.3(VPS13A):c.3971_3974del (p.Ser1324fs) rs1475930869
NM_033305.3(VPS13A):c.4735A>G (p.Ile1579Val)
NM_033305.3(VPS13A):c.5855A>C (p.Asp1952Ala)
NM_033305.3(VPS13A):c.5944G>C (p.Asp1982His)
NM_033305.3(VPS13A):c.6317A>G (p.His2106Arg)
NM_033305.3(VPS13A):c.657G>A (p.Lys219=)
NM_033305.3(VPS13A):c.6867A>T (p.Lys2289Asn) rs2131507554
NM_033305.3(VPS13A):c.8588T>C (p.Leu2863Pro) rs986562076
NM_033305.3(VPS13A):c.9189+2506A>G
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.932A>C (p.Asn311Thr)

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