ClinVar Miner

List of variants in gene VPS35 studied for Parkinson disease 17

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_018206.6(VPS35):c.1938C>T (p.His646=) rs168745 0.97484
NM_018206.6(VPS35):c.1938= (p.His646=) rs168745 0.02516
NM_018206.6(VPS35):c.*283C>A rs199765664 0.00772
NM_018206.6(VPS35):c.1145A>G (p.Lys382Arg) rs116254156 0.00480
NM_018206.6(VPS35):c.1398G>A (p.Thr466=) rs150810185 0.00274
NM_018206.6(VPS35):c.*289C>T rs145606241 0.00272
NM_018206.6(VPS35):c.2241C>T (p.Ile747=) rs140543776 0.00159
NM_018206.6(VPS35):c.834T>C (p.Thr278=) rs148572750 0.00093
NM_018206.6(VPS35):c.*422C>A rs181198454 0.00079
NM_018206.6(VPS35):c.-35C>T rs189775907 0.00054
NM_018206.6(VPS35):c.2145A>G (p.Leu715=) rs145033509 0.00052
NM_018206.6(VPS35):c.1368+17G>A rs183091274 0.00048
NM_018206.6(VPS35):c.1020A>G (p.Gln340=) rs188883365 0.00030
NM_018206.6(VPS35):c.*346G>A rs545755034 0.00029
NM_018206.6(VPS35):c.151G>A (p.Gly51Ser) rs193077277 0.00028
NM_018206.6(VPS35):c.89T>A (p.Met30Lys) rs145147781 0.00024
NM_018206.6(VPS35):c.945A>T (p.Gly315=) rs144346159 0.00023
NM_018206.6(VPS35):c.*401G>A rs553790361 0.00019
NM_018206.6(VPS35):c.1881C>T (p.Ala627=) rs138794859 0.00014
NM_018206.6(VPS35):c.959C>T (p.Ala320Val) rs747944333 0.00013
NM_018206.6(VPS35):c.1268C>T (p.Pro423Leu) rs373075116 0.00012
NM_018206.6(VPS35):c.*575A>T rs768759859 0.00011
NM_018206.6(VPS35):c.946C>T (p.Pro316Ser) rs770029606 0.00009
NM_018206.6(VPS35):c.*34A>G rs779980787 0.00008
NM_018206.6(VPS35):c.*617A>G rs746602580 0.00008
NM_018206.6(VPS35):c.1151A>G (p.Asn384Ser) rs762573165 0.00007
NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu) rs370401767 0.00006
NM_018206.6(VPS35):c.1912A>T (p.Met638Leu) rs144997996 0.00006
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met) rs192419029 0.00006
NM_018206.6(VPS35):c.678C>T (p.Arg226=) rs376845827 0.00006
NM_018206.6(VPS35):c.*345T>G rs1006640513 0.00005
NM_018206.6(VPS35):c.*380G>A rs886052004 0.00005
NM_018206.6(VPS35):c.*276A>C rs886052009 0.00004
NM_018206.6(VPS35):c.110A>G (p.Asn37Ser) rs777006799 0.00004
NM_018206.6(VPS35):c.1142A>G (p.Asn381Ser) rs754978683 0.00004
NM_018206.6(VPS35):c.1495C>T (p.Arg499Cys) rs747325352 0.00003
NM_018206.6(VPS35):c.4-15T>C rs767613585 0.00003
NM_018206.6(VPS35):c.506+4A>C rs760012192 0.00003
NM_018206.6(VPS35):c.851G>A (p.Arg284Gln) rs771276024 0.00003
NM_018206.6(VPS35):c.1317T>C (p.Tyr439=) rs187425753 0.00002
NM_018206.6(VPS35):c.1809A>T (p.Ala603=) rs142063738 0.00002
NM_018206.6(VPS35):c.1893C>T (p.Ile631=) rs1183192271 0.00002
NM_018206.6(VPS35):c.2210C>T (p.Ala737Val) rs749516404 0.00002
NM_018206.6(VPS35):c.2339G>A (p.Arg780Gln) rs910938026 0.00002
NM_018206.6(VPS35):c.648G>A (p.Leu216=) rs763697798 0.00002
NM_018206.6(VPS35):c.*354G>C rs572048744 0.00001
NM_018206.6(VPS35):c.1262T>A (p.Phe421Tyr) rs375087873 0.00001
NM_018206.6(VPS35):c.1290C>T (p.Tyr430=) rs368876504 0.00001
NM_018206.6(VPS35):c.1313G>A (p.Cys438Tyr) rs745893720 0.00001
NM_018206.6(VPS35):c.1369-9A>G rs762973568 0.00001
NM_018206.6(VPS35):c.1371G>A (p.Val457=) rs1009455831 0.00001
NM_018206.6(VPS35):c.1488T>C (p.His496=) rs776877370 0.00001
NM_018206.6(VPS35):c.1520A>T (p.Tyr507Phe) rs1555465749 0.00001
NM_018206.6(VPS35):c.1557T>C (p.Ala519=) rs1463376876 0.00001
NM_018206.6(VPS35):c.1570C>T (p.Arg524Trp) rs184277092 0.00001
NM_018206.6(VPS35):c.1679T>C (p.Ile560Thr) rs760128592 0.00001
NM_018206.6(VPS35):c.171G>A (p.Met57Ile) rs183554824 0.00001
NM_018206.6(VPS35):c.1895T>C (p.Ile632Thr) rs756550058 0.00001
NM_018206.6(VPS35):c.2049G>A (p.Thr683=) rs757523799 0.00001
NM_018206.6(VPS35):c.2068-18C>G rs369864421 0.00001
NM_018206.6(VPS35):c.2073C>T (p.His691=) rs542139125 0.00001
NM_018206.6(VPS35):c.2074G>A (p.Gly692Arg) rs1247681468 0.00001
NM_018206.6(VPS35):c.2122A>C (p.Asn708His) rs199940967 0.00001
NM_018206.6(VPS35):c.2211+11T>C rs375273548 0.00001
NM_018206.6(VPS35):c.*161C>T rs1965892398
NM_018206.6(VPS35):c.-19C>T rs573920049
NM_018206.6(VPS35):c.-35C>G rs189775907
NM_018206.6(VPS35):c.1002A>G (p.Thr334=) rs1966115698
NM_018206.6(VPS35):c.100C>T (p.Leu34=)
NM_018206.6(VPS35):c.102+4A>G
NM_018206.6(VPS35):c.103-17T>C
NM_018206.6(VPS35):c.1035G>A (p.Glu345=) rs563975281
NM_018206.6(VPS35):c.106A>G (p.Lys36Glu)
NM_018206.6(VPS35):c.1119A>G (p.Leu373=)
NM_018206.6(VPS35):c.1120G>A (p.Glu374Lys)
NM_018206.6(VPS35):c.1191A>G (p.Glu397=)
NM_018206.6(VPS35):c.1194C>T (p.Leu398=)
NM_018206.6(VPS35):c.1226dup (p.Tyr409Ter)
NM_018206.6(VPS35):c.1277A>C (p.Glu426Ala)
NM_018206.6(VPS35):c.1291_1292delinsTT (p.Glu431Leu)
NM_018206.6(VPS35):c.1304G>A (p.Ser435Asn)
NM_018206.6(VPS35):c.1331T>C (p.Val444Ala)
NM_018206.6(VPS35):c.1368+15A>G
NM_018206.6(VPS35):c.1369-12C>T
NM_018206.6(VPS35):c.1369-5T>C
NM_018206.6(VPS35):c.1391T>C (p.Val464Ala) rs1555465774
NM_018206.6(VPS35):c.13C>T (p.Gln5Ter) rs2143009092
NM_018206.6(VPS35):c.1427T>C (p.Val476Ala)
NM_018206.6(VPS35):c.144T>C (p.Asn48=)
NM_018206.6(VPS35):c.1477C>T (p.Arg493Cys)
NM_018206.6(VPS35):c.1480T>A (p.Phe494Ile) rs141253289
NM_018206.6(VPS35):c.1482C>T (p.Phe494=)
NM_018206.6(VPS35):c.1525-5G>T rs1966030456
NM_018206.6(VPS35):c.1537G>C (p.Ala513Pro)
NM_018206.6(VPS35):c.1538C>A (p.Ala513Glu)
NM_018206.6(VPS35):c.1541G>A (p.Arg514Gln)
NM_018206.6(VPS35):c.1550T>G (p.Phe517Cys) rs1567264486
NM_018206.6(VPS35):c.1586T>A (p.Leu529Gln)
NM_018206.6(VPS35):c.1642A>G (p.Lys548Glu)
NM_018206.6(VPS35):c.1795C>G (p.His599Asp)
NM_018206.6(VPS35):c.1796A>G (p.His599Arg) rs1434487321
NM_018206.6(VPS35):c.1803A>G (p.Thr601=)
NM_018206.6(VPS35):c.1804G>A (p.Val602Ile) rs896243488
NM_018206.6(VPS35):c.1819A>G (p.Met607Val) rs1555523076
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_018206.6(VPS35):c.1900A>G (p.Thr634Ala) rs1965927007
NM_018206.6(VPS35):c.199+14G>T
NM_018206.6(VPS35):c.199+8T>C
NM_018206.6(VPS35):c.2060G>A (p.Gly687Glu) rs2143005842
NM_018206.6(VPS35):c.2061G>C (p.Gly687=)
NM_018206.6(VPS35):c.2067+14T>C
NM_018206.6(VPS35):c.2068-19C>T
NM_018206.6(VPS35):c.2181T>C (p.Tyr727=)
NM_018206.6(VPS35):c.2212-10dup
NM_018206.6(VPS35):c.222G>A (p.Leu74=) rs2143008798
NM_018206.6(VPS35):c.2295G>C (p.Gln765His)
NM_018206.6(VPS35):c.2316C>T (p.Asn772=) rs752414695
NM_018206.6(VPS35):c.2350C>A (p.Pro784Thr) rs1965895979
NM_018206.6(VPS35):c.2353G>C (p.Glu785Gln) rs1965895878
NM_018206.6(VPS35):c.2359G>A (p.Glu787Lys) rs777050595
NM_018206.6(VPS35):c.2364G>T (p.Gly788=)
NM_018206.6(VPS35):c.267G>A (p.Arg89=)
NM_018206.6(VPS35):c.285C>T (p.Tyr95=)
NM_018206.6(VPS35):c.3+17C>T
NM_018206.6(VPS35):c.340G>A (p.Val114Ile)
NM_018206.6(VPS35):c.4-18G>A
NM_018206.6(VPS35):c.505G>C (p.Asp169His) rs1434089382
NM_018206.6(VPS35):c.507-14C>G
NM_018206.6(VPS35):c.721-16G>A
NM_018206.6(VPS35):c.723T>G (p.Ile241Met) rs192783364
NM_018206.6(VPS35):c.755A>G (p.Asn252Ser)
NM_018206.6(VPS35):c.762G>A (p.Arg254=)
NM_018206.6(VPS35):c.883G>A (p.Val295Met)
NM_018206.6(VPS35):c.894A>C (p.Ile298=)
NM_018206.6(VPS35):c.914+11C>A rs1966155977
NM_018206.6(VPS35):c.914+16A>G
NM_018206.6(VPS35):c.915-16T>G rs757051230
NM_018206.6(VPS35):c.915-17G>T
NM_018206.6(VPS35):c.915-3del rs569369937
NM_018206.6(VPS35):c.935G>T (p.Arg312Leu)
NM_018206.6(VPS35):c.942T>C (p.Asp314=)
NM_018206.6(VPS35):c.977A>T (p.Asp326Val) rs2143007770
NM_018206.6(VPS35):c.978T>C (p.Asp326=)
NM_018206.6(VPS35):c.993G>T (p.Gln331His) rs1483697832
NM_018206.6(VPS35):c.9A>C (p.Thr3=) rs1364157460

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