ClinVar Miner

List of variants studied for ataxia-telangiectasia-like disorder 1 by Baylor Genetics

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP
NM_005591.3(MRE11):c.1045C>T (p.Arg349Trp) rs570102851
NM_005591.3(MRE11):c.1163G>A (p.Arg388Gln) rs587780134
NM_005591.3(MRE11):c.1456A>G (p.Lys486Glu) rs767896176
NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr) rs373522639
NM_005591.3(MRE11):c.2076T>A (p.Asp692Glu) rs778093337
NM_005591.3(MRE11):c.391G>A (p.Asp131Asn) rs368403414
NM_005591.4(MRE11):c.123T>G (p.Asp41Glu) rs1398118094
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) rs137852759
NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup) rs779409748
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763

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