ClinVar Miner

List of variants in gene NUBPL studied for X-linked disease

Included ClinVar conditions (313):
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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_025152.2(NUBPL):c.-39G>A rs886050446
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025152.3(NUBPL):c.*1015C>A rs551958784
NM_025152.3(NUBPL):c.*1047C>T
NM_025152.3(NUBPL):c.*1048G>A rs886050455
NM_025152.3(NUBPL):c.*1053G>A rs546991443
NM_025152.3(NUBPL):c.*1119_*1120insA rs886050456
NM_025152.3(NUBPL):c.*1121_*1123del rs886050458
NM_025152.3(NUBPL):c.*1121dup rs886050457
NM_025152.3(NUBPL):c.*1122_*1124del rs886050460
NM_025152.3(NUBPL):c.*1122dup rs886050459
NM_025152.3(NUBPL):c.*1144_*1147del rs34847511
NM_025152.3(NUBPL):c.*1145_*1148del rs886050463
NM_025152.3(NUBPL):c.*1146_*1148del rs886050464
NM_025152.3(NUBPL):c.*1147dup rs34847511
NM_025152.3(NUBPL):c.*1148del rs886050465
NM_025152.3(NUBPL):c.*1149_*1150insA rs886050466
NM_025152.3(NUBPL):c.*1151G>A rs550119169
NM_025152.3(NUBPL):c.*1155dup rs886050467
NM_025152.3(NUBPL):c.*122G>C rs4981131
NM_025152.3(NUBPL):c.*1260T>C rs551289319
NM_025152.3(NUBPL):c.*135T>G rs377738028
NM_025152.3(NUBPL):c.*1370C>T
NM_025152.3(NUBPL):c.*1451C>T rs28533800
NM_025152.3(NUBPL):c.*1554A>G
NM_025152.3(NUBPL):c.*1594T>G
NM_025152.3(NUBPL):c.*1609G>A rs142179743
NM_025152.3(NUBPL):c.*1619C>T rs886050468
NM_025152.3(NUBPL):c.*1621C>T
NM_025152.3(NUBPL):c.*1655A>G
NM_025152.3(NUBPL):c.*1685A>G rs1129622
NM_025152.3(NUBPL):c.*1694G>A rs1129623
NM_025152.3(NUBPL):c.*1768G>A
NM_025152.3(NUBPL):c.*1773A>G rs886050469
NM_025152.3(NUBPL):c.*1776G>A rs886050470
NM_025152.3(NUBPL):c.*1840A>G rs886050471
NM_025152.3(NUBPL):c.*1874A>G rs10348
NM_025152.3(NUBPL):c.*1888G>A rs7148746
NM_025152.3(NUBPL):c.*188T>C rs569141248
NM_025152.3(NUBPL):c.*1940A>C
NM_025152.3(NUBPL):c.*1963C>A
NM_025152.3(NUBPL):c.*2036A>C rs886050472
NM_025152.3(NUBPL):c.*237G>T
NM_025152.3(NUBPL):c.*26C>G
NM_025152.3(NUBPL):c.*273C>T rs76188062
NM_025152.3(NUBPL):c.*301G>T
NM_025152.3(NUBPL):c.*312G>A rs10162516
NM_025152.3(NUBPL):c.*323G>T
NM_025152.3(NUBPL):c.*344T>C
NM_025152.3(NUBPL):c.*355T>C rs886050452
NM_025152.3(NUBPL):c.*357C>G rs576520205
NM_025152.3(NUBPL):c.*444C>T rs10162515
NM_025152.3(NUBPL):c.*527G>A rs560274677
NM_025152.3(NUBPL):c.*537dup rs200626091
NM_025152.3(NUBPL):c.*561G>A rs189555353
NM_025152.3(NUBPL):c.*638C>G rs886050454
NM_025152.3(NUBPL):c.*72T>C
NM_025152.3(NUBPL):c.*736C>G
NM_025152.3(NUBPL):c.*742C>G
NM_025152.3(NUBPL):c.*806A>G
NM_025152.3(NUBPL):c.*817T>A
NM_025152.3(NUBPL):c.*836C>G rs10147479
NM_025152.3(NUBPL):c.*850C>T
NM_025152.3(NUBPL):c.*864C>T
NM_025152.3(NUBPL):c.*905A>C rs750277296
NM_025152.3(NUBPL):c.*995T>C rs10136892
NM_025152.3(NUBPL):c.-13A>G rs754769393
NM_025152.3(NUBPL):c.-1C>T rs45468395
NM_025152.3(NUBPL):c.-25A>G rs749942385
NM_025152.3(NUBPL):c.-7C>T rs201073307
NM_025152.3(NUBPL):c.109-11A>T rs886050448
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.3(NUBPL):c.256+14T>C rs377077969
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe)
NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) rs1595283708
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val)
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440
NM_025152.3(NUBPL):c.349A>G (p.Met117Val) rs773620793
NM_025152.3(NUBPL):c.351G>A (p.Met117Ile)
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) rs755482148
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760
NM_025152.3(NUBPL):c.384C>T (p.Ser128=) rs886050450
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp)
NM_025152.3(NUBPL):c.422+8T>C rs868061310
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) rs886050447
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) rs781341998
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg)
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.3(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) rs552722349
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) rs554414788
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765
NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) rs879255565
NM_025152.3(NUBPL):c.677G>A (p.Arg226His) rs79498789
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418
NM_025152.3(NUBPL):c.693+1G>A rs751631278
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu)
NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) rs767543623
NM_025152.3(NUBPL):c.777A>G (p.Ala259=)
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) rs770850110
NM_025152.3(NUBPL):c.90G>A (p.Ala30=)

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