ClinVar Miner

List of variants reported for Ataxia-telangiectasia-like disorder 1 by Counsyl

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1225+19T>C rs641936 0.36577
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg) rs115244417 0.01348
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_005591.4(MRE11):c.1032T>G (p.Leu344=) rs11020793 0.00960
NM_005591.4(MRE11):c.2071-53G>T rs13447742 0.00597
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00258
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00021
NM_005591.4(MRE11):c.845+11T>C rs140145979 0.00021
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_005591.4(MRE11):c.2070+14A>C rs369127675 0.00009
NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys) rs773275841 0.00002
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu) rs587782166 0.00002
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.1098+17T>C rs1805365
NM_005591.4(MRE11):c.1226-5T>C rs1555009952
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1927-1G>T rs1295485913
NM_005591.4(MRE11):c.314+6T>C rs864622413
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043

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