ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NC_000011.10:g.(?_94476279)_(94479771_?)del
NC_000011.9:g.(?_94209449)_(94212048_?)dup
NM_005590.4(MRE11):c.1500+1153_1563+1027del
NM_005591.3(MRE11):c.1098+2T>C rs876659343
NM_005591.3(MRE11):c.1327-2A>G rs878854776
NM_005591.3(MRE11):c.1867+2T>C rs745677716
NM_005591.3(MRE11):c.1927-1G>T rs1295485913
NM_005591.3(MRE11):c.1927-2A>G rs587781822
NM_005591.3(MRE11):c.21-6_26del rs587780138
NM_005591.3(MRE11):c.402+2_402+3delinsGGG rs1555015413
NM_005591.3(MRE11):c.659+1G>A rs759130031
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.3(MRE11):c.[168G>T];[497C>T]
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.1225+2T>A
NM_005591.4(MRE11):c.1500+2del
NM_005591.4(MRE11):c.1563+1G>A
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898

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