ClinVar Miner

List of variants in gene MRE11 reported as pathogenic for ataxia-telangiectasia-like disorder 1

Included ClinVar conditions (2):
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Total variants: 32
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HGVS dbSNP
GRCh37/hg19 11q21(chr11:94153291-94170401)
NC_000011.10:g.(?_94470461)_(94492811_?)del
NC_000011.9:g.(?_94168988)_(94170411_?)del
NC_000011.9:g.(?_94180375)_(94180614_?)del
NM_005590.4(MRE11):c.1047_1048del (p.Glu350fs) rs1591688367
NM_005590.4(MRE11):c.1143del (p.Phe381fs) rs863224508
NM_005590.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_005590.4(MRE11):c.1441del (p.Thr481fs) rs747832587
NM_005590.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005590.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005590.4(MRE11):c.504_511del (p.Leu169fs) rs786202253
NM_005590.4(MRE11):c.739dup (p.His247fs) rs786203931
NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.3(MRE11):c.1414G>T (p.Glu472Ter) rs1376550081
NM_005591.3(MRE11):c.1447C>T (p.Arg483Ter) rs780001540
NM_005591.3(MRE11):c.659+1G>A rs759130031
NM_005591.3(MRE11):c.664A>T (p.Lys222Ter) rs371455048
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.1280dup (p.Leu427fs)
NM_005591.4(MRE11):c.1326+1del
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys) rs137852762
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs) rs1245161888
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter)
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) rs137852759
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005591.4(MRE11):c.552del (p.Pro185fs)
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) rs1157413766
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898

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