ClinVar Miner

List of variants in gene VPS53 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_001128159.3(VPS53):c.219-294G>T rs2740362 0.98976
NM_001128159.3(VPS53):c.2328+15A>G rs2034088 0.63097
NM_001128159.3(VPS53):c.2015+160T>G rs11653961 0.62237
NM_001128159.3(VPS53):c.2086-121C>A rs11651340 0.61978
NC_000017.11:g.714860C>G rs2955626 0.60299
NM_001128159.3(VPS53):c.1788-261G>T rs9905044 0.55514
NM_001128159.3(VPS53):c.687+265A>C rs2002015 0.53021
NM_001128159.3(VPS53):c.-90C>T rs2474694 0.44823
NM_001128159.3(VPS53):c.1867-81C>T rs7219151 0.40515
NM_001128159.3(VPS53):c.218+102C>G rs2543781 0.38294
NM_001128159.3(VPS53):c.218+310C>A rs2657629 0.38255
NM_001128159.3(VPS53):c.285+156G>A rs2657633 0.38195
NM_001128159.3(VPS53):c.974+75A>G rs16954064 0.36382
NM_001128159.3(VPS53):c.489-234T>C rs379998 0.34368
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=) rs2075443 0.33961
NM_001128159.2(VPS53):c.-459G>T rs2456274 0.26446
NM_001128159.3(VPS53):c.2085+186G>A rs11650424 0.24193
NM_001128159.3(VPS53):c.219-11T>C rs4968100 0.19527
NM_001128159.3(VPS53):c.1788-193G>C rs12450578 0.18997
NM_001128159.3(VPS53):c.2328+170C>T rs2034087 0.17962
NM_001128159.3(VPS53):c.88-161G>T rs11657527 0.17661
NM_001128159.3(VPS53):c.81C>T (p.Ile27=) rs11558129 0.16882
NM_001128159.3(VPS53):c.1867-71T>C rs12951098 0.15268
NM_001128159.3(VPS53):c.168+272T>G rs10521109 0.14931
NM_001128159.3(VPS53):c.2016-70C>G rs2304947 0.14738
NM_001128159.3(VPS53):c.1313+214G>C rs34345377 0.14487
NM_001128159.3(VPS53):c.982C>A (p.Leu328Ile) rs16954056 0.11362
NM_001128159.3(VPS53):c.688-258A>G rs12450330 0.09613
NM_001128159.3(VPS53):c.168+188G>A rs62053812 0.08525
NM_001128159.3(VPS53):c.-44G>A rs35915949 0.07113
NM_001128159.3(VPS53):c.219-230A>G rs75533558 0.07016
NM_001128159.3(VPS53):c.608+46G>T rs60631479 0.06519
NM_001128159.3(VPS53):c.1867-292C>T rs35320312 0.06254
NM_001128159.3(VPS53):c.1116+296C>A rs62056505 0.05803
NM_001128159.3(VPS53):c.1866+127G>T rs16953529 0.04370
NM_001128159.3(VPS53):c.2016-45T>G rs79639543 0.04297
NM_001128159.3(VPS53):c.88-154C>T rs11653781 0.03965
NM_001128159.3(VPS53):c.1787+156A>G rs149996743 0.03395
NM_001128159.3(VPS53):c.1116+27C>T rs73975715 0.02583
NM_001128159.3(VPS53):c.286-259T>A rs73975798 0.02564
NM_001128159.3(VPS53):c.832-29G>C rs73975718 0.02473
NM_001128159.3(VPS53):c.488+218G>A rs79885967 0.02295
NM_001128159.3(VPS53):c.2184C>T (p.Ile728=) rs16953156 0.01948
NM_001128159.3(VPS53):c.1787+57G>A rs142478715 0.01710
NM_001128159.3(VPS53):c.975-238A>G rs145478325 0.01691
NM_001128159.3(VPS53):c.1788-42G>A rs2304949 0.01577
NM_001128159.3(VPS53):c.1089C>T (p.Ser363=) rs61099969 0.01457
NM_001128159.3(VPS53):c.2328+45dup rs140756478 0.01415
NM_001128159.3(VPS53):c.489-122G>C rs9900266 0.01231
NM_001128159.3(VPS53):c.975-62C>T rs58265223 0.01208
NM_001128159.3(VPS53):c.1219-57C>A rs73277147 0.01202
NM_001128159.3(VPS53):c.489-109T>C rs73281349 0.01089
NM_001128159.3(VPS53):c.168+146G>A rs60716882 0.01079
NM_001128159.3(VPS53):c.2130C>G (p.Leu710=) rs59240016 0.00924
NM_001128159.3(VPS53):c.219-206G>A rs147639969 0.00914
NM_001128159.3(VPS53):c.1314-324C>A rs150018646 0.00871
NM_001128159.3(VPS53):c.1867-150A>T rs143213511 0.00853
NM_001128159.3(VPS53):c.286-187dup rs144528860 0.00826
NM_001128159.3(VPS53):c.609-37T>C rs59649196 0.00800
NM_001128159.3(VPS53):c.219-181A>G rs79363175 0.00685
NM_001128159.3(VPS53):c.169-258C>T rs75104376 0.00680
NM_001128159.3(VPS53):c.218+159T>C rs79167389 0.00678
NM_001128159.3(VPS53):c.488+90A>G rs74965944 0.00605
NM_001128159.3(VPS53):c.219-216A>G rs76783890 0.00555
NM_001128159.3(VPS53):c.2046C>T (p.Leu682=) rs145601260 0.00489
NM_001128159.3(VPS53):c.831+70A>C rs116722145 0.00456
NM_001128159.3(VPS53):c.1866+169G>A rs143964294 0.00387
NM_001128159.3(VPS53):c.832-230C>G rs147728854 0.00342
NM_001128159.3(VPS53):c.1787+82C>T rs182361884 0.00330
NM_001128159.3(VPS53):c.688-235T>C rs116493624 0.00312
NM_001128159.3(VPS53):c.687+119T>C rs73975719 0.00287
NM_001128159.3(VPS53):c.1788-52T>A rs576962422 0.00210
NM_001128159.3(VPS53):c.1866+12G>A rs193257501 0.00157
NM_001128159.3(VPS53):c.1556+3G>A rs77612078 0.00140
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val) rs140376049 0.00139
NM_001128159.3(VPS53):c.688-3T>C rs188572742 0.00110
NM_001128159.3(VPS53):c.189A>G (p.Glu63=) rs115321348 0.00098
NM_001128159.3(VPS53):c.997C>T (p.Arg333Cys) rs145041715 0.00016
NM_001128159.3(VPS53):c.2412C>T (p.Ser804=) rs768263237 0.00014
NM_001128159.3(VPS53):c.1944C>T (p.Asn648=) rs202035474 0.00008
NM_001128159.3(VPS53):c.950C>T (p.Ala317Val) rs376544966 0.00006
NM_001128159.3(VPS53):c.664G>A (p.Ala222Thr) rs144345391 0.00005
NM_001128159.3(VPS53):c.2253G>A (p.Val751=) rs377274469 0.00004
NM_001128159.3(VPS53):c.1312_1313+2del rs768997239 0.00003
NM_001128159.3(VPS53):c.1416C>T (p.Ala472=) rs148959558 0.00003
NM_001128159.3(VPS53):c.281G>A (p.Arg94Gln) rs780440888 0.00003
NM_001128159.3(VPS53):c.2352C>T (p.Ser784=) rs1023247952 0.00002
NM_001128159.3(VPS53):c.1299C>T (p.Ile433=) rs138244894 0.00001
NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu) rs548219603 0.00001
NM_001128159.3(VPS53):c.87G>A (p.Gln29=) rs201431069 0.00001
NC_000017.11:g.714946G>T rs16954764
NC_000017.11:g.715000del rs66686804
NC_000017.11:g.715166del rs150222582
NM_001128159.3(VPS53):c.1266C>T (p.Ser422=) rs1057524168
NM_001128159.3(VPS53):c.1313+79T>G rs2304951
NM_001128159.3(VPS53):c.1314-12_1314-9del rs36070043
NM_001128159.3(VPS53):c.1314-134C>T rs9915472
NM_001128159.3(VPS53):c.1314-19dup rs36070043
NM_001128159.3(VPS53):c.169-133dup rs200529095
NM_001128159.3(VPS53):c.169-134del rs542350655
NM_001128159.3(VPS53):c.1705-113del rs35437010
NM_001128159.3(VPS53):c.1787+44A>C rs145953258
NM_001128159.3(VPS53):c.1866+229dup rs34842319
NM_001128159.3(VPS53):c.2016-157A>G rs2304948
NM_001128159.3(VPS53):c.2329-13C>T rs1555546236
NM_001128159.3(VPS53):c.2397G>A (p.Ser799=) rs377433960
NM_001128159.3(VPS53):c.267G>C (p.Val89=) rs1443158408
NM_001128159.3(VPS53):c.286-130del rs140113256
NM_001128159.3(VPS53):c.300_301dup (p.Gln101fs) rs1447478732
NM_001128159.3(VPS53):c.372+176G>A rs58184664
NM_001128159.3(VPS53):c.372+266del rs142116936
NM_001128159.3(VPS53):c.372+272_372+273dup rs10666256
NM_001128159.3(VPS53):c.372+272_372+274dup rs10666256
NM_001128159.3(VPS53):c.372+272dup rs10666256
NM_001128159.3(VPS53):c.372+288del rs10666256
NM_001128159.3(VPS53):c.372+5G>A
NM_001128159.3(VPS53):c.488+12C>T rs1057523458
NM_001128159.3(VPS53):c.488+287_488+288del rs58913512
NM_001128159.3(VPS53):c.688-16A>G rs369442933
NM_001128159.3(VPS53):c.688-87G>A rs8075534
NM_001128159.3(VPS53):c.69G>T (p.Val23=) rs753398021
NM_001128159.3(VPS53):c.740T>C (p.Ile247Thr) rs1057518257
NM_001128159.3(VPS53):c.814T>C (p.Phe272Leu) rs989869542
NM_001128159.3(VPS53):c.831+243A>T rs16954071
NM_001128159.3(VPS53):c.831+290TG[11] rs60407745
NM_001128159.3(VPS53):c.831+290TG[13] rs60407745
NM_001128159.3(VPS53):c.832-234T>C rs331013
NM_001128159.3(VPS53):c.907G>A (p.Gly303Ser)
NM_001128159.3(VPS53):c.975-255_975-252del rs202087474
NM_001128159.3(VPS53):c.975-279TAAA[4] rs139981445
NM_001128159.3(VPS53):c.975-326G>C rs148420172

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