ClinVar Miner

List of variants reported as pathogenic for Ataxia-telangiectasia-like disorder 1

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_005591.4(MRE11):c.1867+2T>C rs745677716 0.00002
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_005591.4(MRE11):c.1225+2T>C rs145058858 0.00001
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) rs137852759 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
GRCh37/hg19 11q21(chr11:94153291-94170401)
NM_005591.4(MRE11):c.1018del (p.Ile340fs) rs2135024880
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys) rs137852762
NM_005591.4(MRE11):c.1552dup (p.Glu518fs) rs2134969994
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.4(MRE11):c.403-2A>T rs2135086294
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) rs1157413766
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898

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