ClinVar Miner

List of variants in gene NUBPL studied for not provided

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Gene type:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.814+104A>G rs8006872 0.99889
NM_025152.3(NUBPL):c.291+13196C>A rs4981104 0.99525
NM_025152.3(NUBPL):c.693+98A>G rs1540425 0.95998
NM_025152.3(NUBPL):c.292-280A>G rs2034071 0.94874
NM_025152.3(NUBPL):c.513+40918T>C rs12050415 0.71470
NM_025152.3(NUBPL):c.513+41069A>G rs11156699 0.71432
NM_025152.3(NUBPL):c.*995T>C rs10136892 0.59892
NM_025152.3(NUBPL):c.513+150A>G rs8013530 0.55842
NM_025152.3(NUBPL):c.693+236G>A rs8018532 0.53585
NM_025152.3(NUBPL):c.*1874A>G rs10348 0.45711
NM_025152.3(NUBPL):c.257-73A>T rs3759779 0.45126
NM_025152.3(NUBPL):c.*1694G>A rs1129623 0.44285
NM_025152.3(NUBPL):c.*1685A>G rs1129622 0.44269
NM_025152.3(NUBPL):c.608-63T>A rs17379143 0.34757
NM_025152.3(NUBPL):c.514-275A>G rs17483942 0.34315
NM_025152.3(NUBPL):c.291+12963T>C rs7142098 0.31017
NM_025152.3(NUBPL):c.897+155A>G rs3825742 0.29102
NM_025152.3(NUBPL):c.513+41190A>T rs11624772 0.28496
NM_025152.3(NUBPL):c.513+41068C>T rs11623835 0.28493
NM_025152.3(NUBPL):c.897+81C>T rs8009002 0.27518
NM_025152.3(NUBPL):c.897+164A>G rs8009030 0.27476
NM_025152.3(NUBPL):c.815-84T>G rs8009753 0.27391
NM_025152.3(NUBPL):c.815-92G>A rs10132352 0.27352
NM_025152.3(NUBPL):c.*312G>A rs10162516 0.22998
NM_025152.3(NUBPL):c.*1888G>A rs7148746 0.22286
NM_025152.3(NUBPL):c.*444C>T rs10162515 0.21109
NM_025152.3(NUBPL):c.898-212C>T rs8009296 0.20799
NM_025152.3(NUBPL):c.514-32A>G rs7159193 0.13387
NM_025152.3(NUBPL):c.*122G>C rs4981131 0.13131
NM_025152.3(NUBPL):c.514-271G>A rs8020874 0.13120
NM_025152.3(NUBPL):c.814+192T>C rs112167910 0.10170
NM_025152.3(NUBPL):c.*273C>T rs76188062 0.10021
NM_025152.3(NUBPL):c.513+121C>T rs77139143 0.04634
NM_025152.3(NUBPL):c.693+147A>C rs547054610 0.04362
NM_025152.3(NUBPL):c.693+142_693+144del rs199942116 0.04361
NM_025152.3(NUBPL):c.693+145A>G rs538856766 0.04361
NM_025152.3(NUBPL):c.898-92C>T rs11849417 0.03651
NM_025152.3(NUBPL):c.*1451C>T rs28533800 0.03631
NM_025152.3(NUBPL):c.815-180A>G rs113235453 0.03561
NM_025152.3(NUBPL):c.109-29C>T rs77709919 0.03550
NM_025152.3(NUBPL):c.383-132G>A rs8013105 0.03501
NM_025152.3(NUBPL):c.*26C>G rs76130953 0.01425
NM_025152.3(NUBPL):c.513+41027C>T rs113363285 0.01158
NM_025152.3(NUBPL):c.*806A>G rs139044047 0.00955
NM_025152.3(NUBPL):c.*736C>G rs111321293 0.00901
NM_025152.3(NUBPL):c.608-192A>C rs76498669 0.00866
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972 0.00667
NM_025152.3(NUBPL):c.109-103G>A rs147762798 0.00649
NM_025152.3(NUBPL):c.291+12585C>T rs190966297 0.00603
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_025152.3(NUBPL):c.108+217G>C rs74040872 0.00468
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_025152.3(NUBPL):c.514-103G>A rs116351659 0.00439
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_025152.3(NUBPL):c.608-16G>A rs140247189 0.00266
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765 0.00187
NM_025152.3(NUBPL):c.693+19A>G rs181711804 0.00166
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418 0.00121
NM_025152.3(NUBPL):c.256+14T>C rs377077969 0.00113
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) rs201412882 0.00071
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760 0.00066
NM_025152.3(NUBPL):c.-13A>G rs754769393 0.00049
NM_025152.3(NUBPL):c.627G>A (p.Thr209=) rs76401646 0.00039
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_025152.3(NUBPL):c.140A>G (p.Gln47Arg) rs759141485 0.00011
NM_025152.3(NUBPL):c.256+6A>G rs373055016 0.00010
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503 0.00009
NM_025152.3(NUBPL):c.217G>T (p.Ala73Ser) rs745351097 0.00007
NM_025152.3(NUBPL):c.504G>A (p.Leu168=) rs779154807 0.00007
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_025152.3(NUBPL):c.693+7G>A rs201736046 0.00006
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) rs755482148 0.00005
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) rs781341998 0.00005
NM_025152.3(NUBPL):c.198T>A (p.Val66=) rs749672974 0.00004
NM_025152.3(NUBPL):c.145A>G (p.Arg49Gly) rs370063423 0.00003
NM_025152.3(NUBPL):c.324G>A (p.Val108=) rs776758619 0.00003
NM_025152.3(NUBPL):c.422+8T>C rs868061310 0.00002
NM_025152.3(NUBPL):c.956A>G (p.Glu319Gly) rs563851669 0.00002
NM_025152.3(NUBPL):c.108+14C>T rs367612784 0.00001
NM_025152.3(NUBPL):c.201_202insG (p.Gln68fs) rs749681373 0.00001
NM_025152.3(NUBPL):c.290C>T (p.Ser97Leu) rs35433432 0.00001
NM_025152.3(NUBPL):c.298G>A (p.Ala100Thr) rs1179905165 0.00001
NM_025152.3(NUBPL):c.316G>A (p.Val106Met) rs1330977334 0.00001
NM_025152.3(NUBPL):c.382+3A>G rs777457120 0.00001
NM_025152.3(NUBPL):c.460G>A (p.Val154Ile) rs1480892988 0.00001
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) rs765747555 0.00001
NM_025152.3(NUBPL):c.682G>A (p.Val228Ile) rs1009344176 0.00001
NM_025152.3(NUBPL):c.693+1G>A rs751631278 0.00001
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) rs556060060 0.00001
NM_025152.3(NUBPL):c.774dup (p.Ala259fs) rs1431275151 0.00001
GRCh37/hg19 14q12(chr14:31960362-32248251)x1
GRCh37/hg19 14q12(chr14:32023559-32313036)x1
GRCh37/hg19 14q12(chr14:32079222-32447963)x1
GRCh37/hg19 14q12(chr14:32117154-32214183)x1
GRCh37/hg19 14q12(chr14:32143670-32244294)x3
NC_000014.8:g.(?_32068475)_(32068605_?)del
NC_000014.8:g.(?_32319298)_(32319427_?)del
NC_000014.8:g.(?_32319298)_(32328386_?)del
NM_025152.3(NUBPL):c.*1151G>A rs550119169
NM_025152.3(NUBPL):c.*836C>G rs10147479
NM_025152.3(NUBPL):c.-6C>T
NM_025152.3(NUBPL):c.105C>A (p.Arg35=)
NM_025152.3(NUBPL):c.108+7G>A
NM_025152.3(NUBPL):c.109-22TTA[3] rs756690905
NM_025152.3(NUBPL):c.117C>T (p.Gly39=)
NM_025152.3(NUBPL):c.143GAA[1] (p.Arg49del)
NM_025152.3(NUBPL):c.163C>T (p.Arg55Ter)
NM_025152.3(NUBPL):c.176A>G (p.Lys59Arg)
NM_025152.3(NUBPL):c.179A>G (p.Gln60Arg)
NM_025152.3(NUBPL):c.186G>T (p.Pro62=) rs1595277445
NM_025152.3(NUBPL):c.192A>G (p.Glu64=)
NM_025152.3(NUBPL):c.201A>G (p.Lys67=)
NM_025152.3(NUBPL):c.210A>G (p.Ile70Met)
NM_025152.3(NUBPL):c.218C>A (p.Ala73Asp)
NM_025152.3(NUBPL):c.237C>G (p.Val79=) rs1300865369
NM_025152.3(NUBPL):c.257-293del rs146494476
NM_025152.3(NUBPL):c.260A>G (p.Asn87Ser)
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.3(NUBPL):c.291G>A (p.Ser97=)
NM_025152.3(NUBPL):c.292-17T>C
NM_025152.3(NUBPL):c.292-253A>C rs4981105
NM_025152.3(NUBPL):c.345G>A (p.Lys115=)
NM_025152.3(NUBPL):c.35G>A (p.Gly12Glu) rs1198887263
NM_025152.3(NUBPL):c.376T>C (p.Ser126Pro) rs863224125
NM_025152.3(NUBPL):c.383-16_383-15insC rs2139811663
NM_025152.3(NUBPL):c.383-24AG[2] rs863224121
NM_025152.3(NUBPL):c.383-5T>C
NM_025152.3(NUBPL):c.383-5del rs35659584
NM_025152.3(NUBPL):c.383-5dup rs35659584
NM_025152.3(NUBPL):c.383-67del rs146587148
NM_025152.3(NUBPL):c.383-6_383-5dup rs35659584
NM_025152.3(NUBPL):c.414T>G (p.Gly138=)
NM_025152.3(NUBPL):c.422+13A>G rs1057524083
NM_025152.3(NUBPL):c.423-1G>T
NM_025152.3(NUBPL):c.423T>A (p.Cys141Ter) rs2139812107
NM_025152.3(NUBPL):c.426G>A (p.Met142Ile) rs863224124
NM_025152.3(NUBPL):c.474C>A (p.Gly158=)
NM_025152.3(NUBPL):c.47G>C (p.Arg16Pro)
NM_025152.3(NUBPL):c.506T>G (p.Leu169Trp)
NM_025152.3(NUBPL):c.513+19A>G
NM_025152.3(NUBPL):c.51T>C (p.Ala17=)
NM_025152.3(NUBPL):c.523G>A (p.Gly175Ser)
NM_025152.3(NUBPL):c.526C>T (p.Gln176Ter) rs1555338209
NM_025152.3(NUBPL):c.549C>T (p.Asp183=)
NM_025152.3(NUBPL):c.579A>G (p.Leu193=)
NM_025152.3(NUBPL):c.579dup (p.Ser194fs)
NM_025152.3(NUBPL):c.607+274del rs199831880
NM_025152.3(NUBPL):c.607+3A>G rs752544093
NM_025152.3(NUBPL):c.608-13T>G
NM_025152.3(NUBPL):c.608-1G>C
NM_025152.3(NUBPL):c.608-8T>C
NM_025152.3(NUBPL):c.611C>T (p.Ala204Val)
NM_025152.3(NUBPL):c.61G>A (p.Ala21Thr)
NM_025152.3(NUBPL):c.64A>G (p.Thr22Ala)
NM_025152.3(NUBPL):c.662G>T (p.Gly221Val)
NM_025152.3(NUBPL):c.677G>C (p.Arg226Pro)
NM_025152.3(NUBPL):c.693+10_693+17del
NM_025152.3(NUBPL):c.693+18C>A
NM_025152.3(NUBPL):c.694-206del rs146631837
NM_025152.3(NUBPL):c.694-20T>G
NM_025152.3(NUBPL):c.694-218_694-217del rs199839089
NM_025152.3(NUBPL):c.74T>C (p.Leu25Pro)
NM_025152.3(NUBPL):c.763G>A (p.Gly255Ser)
NM_025152.3(NUBPL):c.792G>C (p.Gln264His)
NM_025152.3(NUBPL):c.814+16G>A
NM_025152.3(NUBPL):c.815-15G>A rs1404577654
NM_025152.3(NUBPL):c.864G>A (p.Gln288=)
NM_025152.3(NUBPL):c.86G>A (p.Arg29Gln) rs2033279182
NM_025152.3(NUBPL):c.875T>G (p.Phe292Cys)
NM_025152.3(NUBPL):c.895G>C (p.Glu299Gln)
NM_025152.3(NUBPL):c.898-160G>T rs3742923
NM_025152.3(NUBPL):c.898-16G>C
NM_025152.3(NUBPL):c.920C>T (p.Ala307Val)
NM_025152.3(NUBPL):c.927A>T (p.Glu309Asp)
NM_025152.3(NUBPL):c.950C>A (p.Pro317His)
NM_025152.3(NUBPL):c.957A>G (p.Glu319=)

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