ClinVar Miner

List of variants in gene MRE11 reported as pathogenic for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_005591.3(MRE11):c.1047_1048del (p.Glu350fs)
NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.3(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.3(MRE11):c.1442C>A (p.Thr481Lys) rs137852762
NM_005591.3(MRE11):c.1447C>T (p.Arg483Ter) rs780001540
NM_005591.3(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005591.3(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005591.3(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.3(MRE11):c.1897C>T (p.Arg633Ter) rs137852759
NM_005591.3(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_005591.3(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005591.3(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005591.3(MRE11):c.659+1G>A rs759130031
NM_005591.3(MRE11):c.664A>T (p.Lys222Ter)
NM_005591.3(MRE11):c.739dup (p.His247fs) rs786203931

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