ClinVar Miner

List of variants in gene VPS13B reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
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.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_152564.5(VPS13B):c.11495+6A>G rs116546060 0.00070
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.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) rs376308074 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.6752T>C (p.Val2251Ala) rs147576864 0.00024
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His) rs150464408 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 0.00013
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu) rs139732310 0.00013
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys) rs143787982 0.00012
NM_152564.5(VPS13B):c.11885C>G (p.Pro3962Arg) rs531619892 0.00009
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.560G>A (p.Arg187His) rs150941426 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln) rs147907236 0.00007
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu) rs143187571 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 0.00006
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=) rs139227281 0.00005
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr) rs868118584 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu) rs183874686 0.00005
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) rs370172252 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly) rs112858205 0.00004
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) rs755227174 0.00004
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) rs369932118 0.00004
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln) rs544366805 0.00004
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 0.00003
NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys) rs760207080 0.00003
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met) rs745866775 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) rs368041601 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.10522G>A (p.Val3508Met) rs142957181 0.00001
NM_152564.5(VPS13B):c.1229G>A (p.Ser410Asn) rs1465978289 0.00001
NM_152564.5(VPS13B):c.1526C>G (p.Thr509Ser) rs1445396058 0.00001
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys) rs769956475 0.00001
NM_152564.5(VPS13B):c.3366G>C (p.Lys1122Asn) rs752453891 0.00001
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His) rs757707584 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.6658-3A>T rs994417111 0.00001
NM_152564.5(VPS13B):c.6668G>A (p.Gly2223Asp) rs189948782 0.00001
NM_152564.5(VPS13B):c.7247+9T>C rs545008110 0.00001
NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val) rs797046096 0.00001
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) rs772361332 0.00001
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys) rs756531043 0.00001
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) rs535553836
NM_152564.5(VPS13B):c.10478A>G (p.Asp3493Gly) rs587780497
NM_152564.5(VPS13B):c.11275C>G (p.Gln3759Glu) rs797046093
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11831C>A (p.Pro3944His) rs1010334738
NM_152564.5(VPS13B):c.1569A>G (p.Thr523=) rs797046094
NM_152564.5(VPS13B):c.1664A>G (p.Gln555Arg) rs2132580980
NM_152564.5(VPS13B):c.37T>C (p.Tyr13His) rs1310676971
NM_152564.5(VPS13B):c.4550G>T (p.Arg1517Leu) rs531149269
NM_152564.5(VPS13B):c.4633+8C>G rs1554826671
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile) rs1014154776
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly) rs1829392467
NM_152564.5(VPS13B):c.6931A>G (p.Met2311Val) rs797046095
NM_152564.5(VPS13B):c.723A>C (p.Thr241=) rs778049327
NM_152564.5(VPS13B):c.8320T>C (p.Cys2774Arg) rs1554565672
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=) rs797046097
NM_152564.5(VPS13B):c.9614+8A>T rs1554574118

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