ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NC_000011.10:g.(?_94476279)_(94479771_?)del
NC_000011.10:g.(?_94476283)_(94478882_?)dup
NM_005591.3(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005591.3(MRE11):c.1927-1G>T rs1295485913
NM_005591.3(MRE11):c.350A>G (p.Asn117Ser) rs137852760
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]

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