ClinVar Miner

List of variants in gene VPS13D reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.9024T>C (p.Ile3008=) rs41279460 0.01391
NM_015378.4(VPS13D):c.4831G>A (p.Glu1611Lys) rs41279452 0.00875
NM_015378.4(VPS13D):c.8647C>T (p.Arg2883Cys) rs143194636 0.00505
NM_015378.4(VPS13D):c.2859G>A (p.Gln953=) rs139222925 0.00503
NM_015378.4(VPS13D):c.11370+4A>T rs138489477 0.00466
NM_015378.4(VPS13D):c.13015C>G (p.Pro4339Ala) rs145495867 0.00387
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu) rs12407578 0.00280
NM_015378.4(VPS13D):c.7294C>T (p.Arg2432Cys) rs150598243 0.00238
NM_015378.4(VPS13D):c.613A>G (p.Ile205Val) rs61774897 0.00232
NM_015378.4(VPS13D):c.1029G>A (p.Leu343=) rs145431020 0.00206
NM_015378.4(VPS13D):c.11882-8T>C rs144848289 0.00201
NM_015378.4(VPS13D):c.10421A>T (p.Lys3474Met) rs145226038 0.00182
NM_015378.4(VPS13D):c.9501A>G (p.Ala3167=) rs140401958 0.00152
NM_015378.4(VPS13D):c.5334T>A (p.Ser1778Arg) rs144311414 0.00133
NM_015378.4(VPS13D):c.7243C>T (p.His2415Tyr) rs145303326 0.00125
NM_015378.4(VPS13D):c.459A>C (p.Gln153His) rs116415833 0.00120
NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn) rs79282181 0.00112
NM_015378.4(VPS13D):c.1229A>T (p.Gln410Leu) rs112286021 0.00086
NM_015378.4(VPS13D):c.6303T>G (p.His2101Gln) rs143933696 0.00066
NM_015378.4(VPS13D):c.7494C>T (p.Thr2498=) rs145139518 0.00066
NM_015378.4(VPS13D):c.12140A>G (p.Asn4047Ser) rs138906978 0.00062
NM_015378.4(VPS13D):c.1538A>G (p.Lys513Arg) rs140107975 0.00053
NM_015378.4(VPS13D):c.8334A>G (p.Gln2778=) rs150154094 0.00048
NM_015378.4(VPS13D):c.10636A>G (p.Met3546Val) rs142394129 0.00047
NM_015378.4(VPS13D):c.3178G>A (p.Asp1060Asn) rs200303790 0.00044
NM_015378.4(VPS13D):c.9090G>A (p.Val3030=) rs200703371 0.00044
NM_015378.4(VPS13D):c.168C>G (p.Val56=) rs375130709 0.00039
NM_015378.4(VPS13D):c.6162C>T (p.Val2054=) rs139333032 0.00034
NM_015378.4(VPS13D):c.2128C>T (p.Arg710Trp) rs139539467 0.00019
NM_015378.4(VPS13D):c.1749A>C (p.Ser583=) rs370409739 0.00016
NM_015378.4(VPS13D):c.628G>A (p.Asp210Asn) rs145337192 0.00009
NM_015378.4(VPS13D):c.5898C>T (p.Arg1966=) rs150933670 0.00008
NM_015378.4(VPS13D):c.1290G>A (p.Leu430=) rs149663017 0.00006
NM_015378.4(VPS13D):c.8478T>C (p.Asp2826=) rs370198400 0.00006
NM_015378.4(VPS13D):c.3255G>A (p.Gln1085=) rs562608497 0.00005
NM_015378.4(VPS13D):c.8310T>C (p.Pro2770=) rs146929592 0.00005
NM_015378.4(VPS13D):c.8970C>T (p.Val2990=) rs140033174 0.00005
NM_015378.4(VPS13D):c.7893A>T (p.Arg2631Ser) rs1030203279 0.00004
NM_015378.4(VPS13D):c.10260T>C (p.Phe3420=)
NM_015378.4(VPS13D):c.10545T>A (p.Pro3515=)
NM_015378.4(VPS13D):c.105T>C (p.Val35=)
NM_015378.4(VPS13D):c.11214G>A (p.Leu3738=)
NM_015378.4(VPS13D):c.1269C>T (p.Pro423=)
NM_015378.4(VPS13D):c.1464G>A (p.Thr488=)
NM_015378.4(VPS13D):c.1801+6T>A
NM_015378.4(VPS13D):c.242C>T (p.Ser81Phe)
NM_015378.4(VPS13D):c.2790C>T (p.Ser930=)
NM_015378.4(VPS13D):c.2838C>T (p.Arg946=)
NM_015378.4(VPS13D):c.3161A>C (p.Asp1054Ala)
NM_015378.4(VPS13D):c.3231G>A (p.Glu1077=)
NM_015378.4(VPS13D):c.3509T>G (p.Ile1170Ser) rs1569777589
NM_015378.4(VPS13D):c.5235G>A (p.Ala1745=)
NM_015378.4(VPS13D):c.5505C>T (p.Ile1835=)
NM_015378.4(VPS13D):c.7095C>T (p.Pro2365=)
NM_015378.4(VPS13D):c.7110C>T (p.Ser2370=) rs1642835244
NM_015378.4(VPS13D):c.7899C>T (p.Thr2633=) rs1643073161
NM_015378.4(VPS13D):c.795T>G (p.Ile265Met)
NM_015378.4(VPS13D):c.907C>T (p.Arg303Ter) rs1569704391

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