ClinVar Miner

List of variants in gene UBR1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_174916.3(UBR1):c.5135G>A (p.Arg1712His) rs141828250 0.00099
NM_174916.3(UBR1):c.5202C>G (p.Ser1734Arg) rs139367236 0.00094
NM_174916.3(UBR1):c.4895C>T (p.Ala1632Val) rs141227308 0.00091
NM_174916.3(UBR1):c.3669A>G (p.Ala1223=) rs146271578 0.00078
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_174916.3(UBR1):c.1065A>C (p.Leu355Phe) rs142798632 0.00026
NM_174916.3(UBR1):c.947G>A (p.Arg316His) rs147396426 0.00017
NM_174916.3(UBR1):c.3947G>A (p.Arg1316Gln) rs138510410 0.00009
NM_174916.3(UBR1):c.3196A>G (p.Met1066Val) rs776583103 0.00003
NM_174916.3(UBR1):c.1144A>G (p.Met382Val) rs1275090232 0.00002
NM_174916.3(UBR1):c.1508G>A (p.Arg503Gln) rs774341055 0.00002
NM_174916.3(UBR1):c.3455A>G (p.Tyr1152Cys) rs751554684 0.00002
NM_174916.3(UBR1):c.5092A>G (p.Thr1698Ala) rs748150323 0.00002
NM_174916.3(UBR1):c.604G>A (p.Val202Ile) rs190360605 0.00002
NM_174916.3(UBR1):c.850G>C (p.Glu284Gln) rs747313563 0.00002
NM_174916.3(UBR1):c.1288C>T (p.His430Tyr) rs930246370 0.00001
NM_174916.3(UBR1):c.1810C>A (p.Leu604Ile) rs747081057 0.00001
NM_174916.3(UBR1):c.3708A>G (p.Ile1236Met) rs2032669345 0.00001
NM_174916.3(UBR1):c.3789A>G (p.Gln1263=) rs1290986170 0.00001
NM_174916.3(UBR1):c.4847C>T (p.Ser1616Phe) rs764269850 0.00001
NM_174916.3(UBR1):c.4868A>G (p.His1623Arg) rs373539628 0.00001
NM_174916.3(UBR1):c.4946A>G (p.Glu1649Gly) rs1335908378 0.00001
NM_174916.3(UBR1):c.5194G>T (p.Ala1732Ser) rs760804119 0.00001
GRCh37/hg19 15q15.2(chr15:43295821-43357630)x3
GRCh37/hg19 15q15.2(chr15:43314157-43402377)x1
NC_000015.9:g.(?_43351263)_(43398220_?)dup
NC_000015.9:g.(?_43351880)_(43398220_?)dup
NM_174916.3(UBR1):c.1033G>A (p.Asp345Asn)
NM_174916.3(UBR1):c.109A>G (p.Thr37Ala)
NM_174916.3(UBR1):c.1165G>A (p.Ala389Thr) rs200801495
NM_174916.3(UBR1):c.1262T>C (p.Met421Thr)
NM_174916.3(UBR1):c.1286G>A (p.Arg429Gln)
NM_174916.3(UBR1):c.1444A>G (p.Ile482Val)
NM_174916.3(UBR1):c.1663T>C (p.Cys555Arg)
NM_174916.3(UBR1):c.1861C>T (p.Arg621Cys)
NM_174916.3(UBR1):c.1862G>A (p.Arg621His)
NM_174916.3(UBR1):c.1917C>G (p.Asp639Glu)
NM_174916.3(UBR1):c.2023-3T>C
NM_174916.3(UBR1):c.2190+20T>C rs2141316539
NM_174916.3(UBR1):c.2194T>G (p.Leu732Val)
NM_174916.3(UBR1):c.2261G>A (p.Arg754His) rs1567131023
NM_174916.3(UBR1):c.2314A>G (p.Ile772Val) rs2141310474
NM_174916.3(UBR1):c.2380-20_2380-2del rs1567130338
NM_174916.3(UBR1):c.2603C>T (p.Pro868Leu)
NM_174916.3(UBR1):c.2629A>G (p.Lys877Glu) rs1000752634
NM_174916.3(UBR1):c.3074C>T (p.Ala1025Val)
NM_174916.3(UBR1):c.3164C>T (p.Thr1055Ile)
NM_174916.3(UBR1):c.3225T>G (p.Ser1075Arg)
NM_174916.3(UBR1):c.3436A>C (p.Met1146Leu) rs754753489
NM_174916.3(UBR1):c.3509+2dup rs2141286211
NM_174916.3(UBR1):c.3556G>A (p.Asp1186Asn)
NM_174916.3(UBR1):c.3700C>T (p.Arg1234Trp) rs770295197
NM_174916.3(UBR1):c.3710A>C (p.Gln1237Pro)
NM_174916.3(UBR1):c.3739A>G (p.Asn1247Asp)
NM_174916.3(UBR1):c.3848C>T (p.Ser1283Leu)
NM_174916.3(UBR1):c.3995T>C (p.Ile1332Thr) rs761815089
NM_174916.3(UBR1):c.3998-7_3998-5del
NM_174916.3(UBR1):c.4132C>G (p.Leu1378Val)
NM_174916.3(UBR1):c.4198A>G (p.Ile1400Val)
NM_174916.3(UBR1):c.4213G>A (p.Val1405Ile)
NM_174916.3(UBR1):c.4280C>T (p.Ser1427Phe) rs1480939799
NM_174916.3(UBR1):c.4291T>C (p.Ser1431Pro)
NM_174916.3(UBR1):c.439G>T (p.Gly147Trp)
NM_174916.3(UBR1):c.4438A>G (p.Ile1480Val)
NM_174916.3(UBR1):c.4571C>T (p.Pro1524Leu)
NM_174916.3(UBR1):c.4601_4603del (p.Glu1534del) rs753040283
NM_174916.3(UBR1):c.4631T>C (p.Leu1544Pro)
NM_174916.3(UBR1):c.4639C>G (p.Pro1547Ala)
NM_174916.3(UBR1):c.4898T>C (p.Ile1633Thr)
NM_174916.3(UBR1):c.4970C>T (p.Ala1657Val)
NM_174916.3(UBR1):c.4972C>T (p.Leu1658Phe)
NM_174916.3(UBR1):c.5021G>A (p.Arg1674Gln)
NM_174916.3(UBR1):c.5062C>T (p.Pro1688Ser)
NM_174916.3(UBR1):c.5113G>A (p.Gly1705Ser) rs2141245368
NM_174916.3(UBR1):c.5128T>G (p.Leu1710Val) rs2031716308
NM_174916.3(UBR1):c.5147G>A (p.Arg1716Gln)
NM_174916.3(UBR1):c.5220G>T (p.Met1740Ile) rs2141245282
NM_174916.3(UBR1):c.752G>T (p.Cys251Phe)
NM_174916.3(UBR1):c.806G>A (p.Arg269Gln)
NM_174916.3(UBR1):c.863G>A (p.Ser288Asn)
NM_174916.3(UBR1):c.92A>G (p.Gln31Arg)
NM_174916.3(UBR1):c.941C>T (p.Ala314Val)
NM_174916.3(UBR1):c.975G>C (p.Met325Ile)
NM_174916.3(UBR1):c.985+4A>C

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