ClinVar Miner

List of variants in gene VPS13B reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235 0.00760
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00066
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.711T>C (p.Arg237=) rs140808736 0.00047
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00031
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=) rs142380266 0.00029
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_152564.5(VPS13B):c.9783C>T (p.Ser3261=) rs147242148 0.00025
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.2748A>G (p.Pro916=) rs144830924 0.00014
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) rs144223843 0.00014
NM_152564.5(VPS13B):c.1551A>C (p.Ser517=) rs200635121 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.3621C>T (p.Leu1207=) rs373889030 0.00011
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=) rs781485612 0.00010
NM_152564.5(VPS13B):c.7164C>T (p.Leu2388=) rs374136243 0.00009
NM_152564.5(VPS13B):c.7950C>T (p.His2650=) rs61754503 0.00009
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=) rs542823658 0.00009
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) rs182347753 0.00008
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val) rs145265055 0.00007
NM_152564.5(VPS13B):c.9338G>A (p.Arg3113His) rs141408531 0.00007
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) rs771022240 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_152564.5(VPS13B):c.3180T>C (p.Val1060=) rs528478636 0.00005
NM_152564.5(VPS13B):c.10200G>A (p.Pro3400=) rs151315104 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11001C>T (p.Gly3667=) rs367797468 0.00004
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=) rs754939057 0.00004
NM_152564.5(VPS13B):c.9786G>A (p.Glu3262=) rs138221649 0.00004
NM_152564.5(VPS13B):c.9921C>T (p.Asp3307=) rs754001219 0.00004
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=) rs557250154 0.00003
NM_152564.5(VPS13B):c.2808C>T (p.Asp936=) rs377174760 0.00003
NM_152564.5(VPS13B):c.7156A>G (p.Ile2386Val) rs370689956 0.00003
NM_152564.5(VPS13B):c.723A>G (p.Thr241=) rs778049327 0.00003
NM_152564.5(VPS13B):c.90A>G (p.Leu30=) rs771860546 0.00003
NM_152564.5(VPS13B):c.1776T>C (p.His592=) rs756818683 0.00002
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) rs775071483 0.00002
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=) rs765924507 0.00002
NM_017890.5(VPS13B):c.4281C>T (p.Cys1427=) rs1563767252 0.00001
NM_152564.5(VPS13B):c.10410A>G (p.Glu3470=) rs751254612 0.00001
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val) rs1225418115 0.00001
NM_152564.5(VPS13B):c.10881G>A (p.Gly3627=) rs770336524 0.00001
NM_152564.5(VPS13B):c.10950C>T (p.Phe3650=) rs773394643 0.00001
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=) rs199748413 0.00001
NM_152564.5(VPS13B):c.11046T>A (p.Gly3682=) rs1178600682 0.00001
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00001
NM_152564.5(VPS13B):c.3255G>A (p.Leu1085=) rs371674854 0.00001
NM_152564.5(VPS13B):c.3465G>A (p.Thr1155=) rs779726673 0.00001
NM_152564.5(VPS13B):c.3594T>C (p.Asp1198=) rs779156454 0.00001
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile) rs770669224 0.00001
NM_152564.5(VPS13B):c.5178A>G (p.Val1726=) rs761688743 0.00001
NM_152564.5(VPS13B):c.5469A>G (p.Leu1823=) rs774190999 0.00001
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) rs771916272 0.00001
NM_152564.5(VPS13B):c.6417T>C (p.Asn2139=) rs1359924343 0.00001
NM_152564.5(VPS13B):c.6930G>A (p.Gly2310=) rs778096388 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.7866G>A (p.Val2622=) rs772064414 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) rs199552885 0.00001
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) rs1383239374 0.00001
NM_152564.5(VPS13B):c.10527A>G (p.Glu3509=) rs113120767
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194
NM_152564.5(VPS13B):c.10974C>G (p.Thr3658=) rs375117356
NM_152564.5(VPS13B):c.11313G>A (p.Ser3771=) rs753931096
NM_152564.5(VPS13B):c.11478C>T (p.Ser3826=)
NM_152564.5(VPS13B):c.11529C>T (p.Val3843=) rs2130975340
NM_152564.5(VPS13B):c.1491A>C (p.Ser497=) rs374276141
NM_152564.5(VPS13B):c.1891C>T (p.Leu631Phe)
NM_152564.5(VPS13B):c.2516-3T>A rs377723973
NM_152564.5(VPS13B):c.3939T>C (p.Ser1313=)
NM_152564.5(VPS13B):c.4551C>T (p.Arg1517=) rs150376603
NM_152564.5(VPS13B):c.4634C>T (p.Ala1545Val)
NM_152564.5(VPS13B):c.4887G>T (p.Gly1629=) rs747778744
NM_152564.5(VPS13B):c.5502G>A (p.Ser1834=) rs143115716
NM_152564.5(VPS13B):c.5670C>G (p.Val1890=)
NM_152564.5(VPS13B):c.6951A>G (p.Pro2317=) rs1175046825
NM_152564.5(VPS13B):c.7011T>C (p.Asp2337=)
NM_152564.5(VPS13B):c.8760C>A (p.Pro2920=)
NM_152564.5(VPS13B):c.9868T>C (p.Leu3290=) rs1391149548

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