ClinVar Miner

List of variants studied for ataxia-telangiectasia-like disorder 1 by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP
NM_005591.3(MRE11):c.1002C>G (p.Ser334Arg) rs115244417
NM_005591.3(MRE11):c.1032T>G (p.Leu344=) rs11020793
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005591.3(MRE11):c.1783+5G>C rs142082313
NM_005591.3(MRE11):c.1994+10G>A rs1805366
NM_005591.3(MRE11):c.2092A>G (p.Met698Val) rs1805362
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.771A>G (p.Glu257=) rs13447632
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249

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