ClinVar Miner

List of variants reported as likely pathogenic for Ataxia-telangiectasia-like disorder

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Total variants: 14
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HGVS dbSNP
NC_000011.10:g.(?_94476279)_(94479771_?)del
NC_000011.9:g.(?_94194092)_(94212937_?)dup
NC_000011.9:g.(?_94209449)_(94212048_?)dup
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.1927-2A>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.77T>C (p.Met26Thr) rs372068015
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.350A>G (p.Asn117Ser) rs137852760

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