ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP
NM_015243.2(VPS13B):c.1000T>C (p.Tyr334His) rs150464408
NM_015243.2(VPS13B):c.1229G>A (p.Ser410Asn) rs1465978289
NM_015243.2(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_015243.2(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_015243.2(VPS13B):c.1425+9G>A rs551460373
NM_015243.2(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_015243.2(VPS13B):c.1526C>G (p.Thr509Ser) rs1445396058
NM_015243.2(VPS13B):c.1529G>A (p.Arg510His) rs771667880
NM_015243.2(VPS13B):c.1569A>G (p.Thr523=) rs797046094
NM_015243.2(VPS13B):c.162A>G (p.Pro54=) rs747961838
NM_015243.2(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568
NM_015243.2(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_015243.2(VPS13B):c.1753C>T (p.Arg585Cys) rs769956475
NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_015243.2(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_015243.2(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_015243.2(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701
NM_015243.2(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_015243.2(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141
NM_015243.2(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159
NM_015243.2(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_015243.2(VPS13B):c.358A>G (p.Ile120Val) rs201147123
NM_015243.2(VPS13B):c.365C>T (p.Pro122Leu) rs201723380
NM_015243.2(VPS13B):c.37T>C (p.Tyr13His) rs1310676971
NM_015243.2(VPS13B):c.560G>A (p.Arg187His) rs150941426
NM_015243.2(VPS13B):c.723A>C (p.Thr241=) rs778049327
NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) rs116746734
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile) rs111353525
NM_017890.4(VPS13B):c.10204C>T (p.Leu3402Phe) rs535553836
NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) rs115369860
NM_017890.4(VPS13B):c.10274C>T (p.Pro3425Leu) rs368041601
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.10459C>T (p.Leu3487Phe) rs761972356
NM_017890.4(VPS13B):c.10553A>G (p.Asp3518Gly) rs587780497
NM_017890.4(VPS13B):c.10596C>T (p.Tyr3532=) rs767239312
NM_017890.4(VPS13B):c.10597G>A (p.Val3533Met) rs142957181
NM_017890.4(VPS13B):c.10624A>G (p.Lys3542Glu) rs143187571
NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) rs150767461
NM_017890.4(VPS13B):c.10701G>A (p.Val3567=) rs139227281
NM_017890.4(VPS13B):c.10738G>A (p.Val3580Met) rs745866775
NM_017890.4(VPS13B):c.10920C>T (p.Ala3640=) rs781485612
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11189A>T (p.Glu3730Val) rs376308074
NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) rs150393340
NM_017890.4(VPS13B):c.11350C>G (p.Gln3784Glu) rs797046093
NM_017890.4(VPS13B):c.11430C>T (p.Ile3810=) rs865965849
NM_017890.4(VPS13B):c.11570+6A>G rs116546060
NM_017890.4(VPS13B):c.11595del (p.Arg3865fs) rs747217399
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) rs7844645
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11694G>C (p.Val3898=) rs113454700
NM_017890.4(VPS13B):c.11906C>A (p.Pro3969His) rs1010334738
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3366G>C (p.Lys1122Asn) rs752453891
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=) rs16897391
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) rs34941871
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.4337A>G (p.His1446Arg) rs371961155
NM_017890.4(VPS13B):c.4708+8C>G rs1554826671
NM_017890.4(VPS13B):c.4949G>T (p.Ser1650Ile) rs1014154776
NM_017890.4(VPS13B):c.5360G>A (p.Arg1787His) rs587780498
NM_017890.4(VPS13B):c.5452C>T (p.Arg1818Cys) rs760207080
NM_017890.4(VPS13B):c.5592G>A (p.Gln1864=) rs61742808
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.5738T>C (p.Ile1913Thr) rs779082817
NM_017890.4(VPS13B):c.5878T>G (p.Ser1960Ala) rs138930771
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.6084del (p.Phe2028fs) rs1357171752
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6706A>C (p.Ile2236Leu) rs369932118
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6743G>A (p.Gly2248Asp) rs189948782
NM_017890.4(VPS13B):c.7006A>G (p.Met2336Val) rs797046095
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
NM_017890.4(VPS13B):c.7174del (p.Ala2392fs) rs1554948192
NM_017890.4(VPS13B):c.7226C>T (p.Pro2409Leu) rs183874686
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7322+9T>C rs545008110
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) rs145208175
NM_017890.4(VPS13B):c.8073T>C (p.Ser2691=) rs199941415
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
NM_017890.4(VPS13B):c.8395T>C (p.Cys2799Arg) rs1554565672
NM_017890.4(VPS13B):c.8572A>G (p.Ile2858Val) rs797046096
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.8736A>G (p.Ser2912=) rs199552885
NM_017890.4(VPS13B):c.8814G>T (p.Gly2938=) rs797046097
NM_017890.4(VPS13B):c.8826G>A (p.Ser2942=) rs775883776
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.8990G>A (p.Trp2997Ter) rs797046098
NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.9405+10T>A rs75904081
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) rs113671330
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.9668G>A (p.Arg3223Gln) rs544366805
NM_017890.4(VPS13B):c.9689+8A>T rs1554574118
NM_017890.4(VPS13B):c.9720C>T (p.Leu3240=) rs373968888
NM_017890.4(VPS13B):c.9943T>C (p.Leu3315=) rs1391149548

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