ClinVar Miner

List of variants reported as benign for ataxia-telangiectasia-like disorder 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_005591.3(MRE11):c.*1083T>C rs118070493
NM_005591.3(MRE11):c.*1766G>C rs13447752
NM_005591.3(MRE11):c.*183G>A rs13447745
NM_005591.3(MRE11):c.*2067A>G rs13447755
NM_005591.3(MRE11):c.*2501A>G rs2155209
NM_005591.3(MRE11):c.*2662A>G rs13447759
NM_005591.3(MRE11):c.*2699A>T rs13447760
NM_005591.3(MRE11):c.*442A>G rs1061956
NM_005591.3(MRE11):c.*511G>A rs13447749
NM_005591.3(MRE11):c.-106+5G>A rs1805363
NM_005591.3(MRE11):c.-178G>A rs1805360
NM_005591.3(MRE11):c.1002C>G (p.Ser334Arg) rs115244417
NM_005591.3(MRE11):c.1994+10G>A rs1805366
NM_005591.3(MRE11):c.2092A>G (p.Met698Val) rs1805362
NM_005591.4(MRE11):c.*2053T>C
NM_005591.4(MRE11):c.*2466T>C
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.4(MRE11):c.403-6G>A rs535801

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