ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.20+28G>A rs497763 0.42216
NM_005591.4(MRE11):c.1225+19T>C rs641936 0.36577
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_005591.4(MRE11):c.*2501A>G rs2155209 0.27303
NM_005591.4(MRE11):c.-106+5G>A rs1805363 0.06142
NM_005591.4(MRE11):c.*511G>A rs13447749 0.04146
NM_005591.3(MRE11):c.-178G>A rs1805360 0.03996
NM_005591.4(MRE11):c.*442A>G rs1061956 0.03122
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg) rs115244417 0.01348
NM_005591.4(MRE11):c.*183G>A rs13447745 0.01140
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.*2699A>T rs13447760 0.00868
NM_005591.4(MRE11):c.*1766G>C rs13447752 0.00867
NM_005591.4(MRE11):c.*2466T>C rs13447758 0.00620
NM_005591.4(MRE11):c.*1083T>C rs118070493 0.00616
NM_005591.4(MRE11):c.*2053T>C rs13447754 0.00600
NM_005591.4(MRE11):c.*2067A>G rs13447755 0.00598
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.*2662A>G rs13447759 0.00408
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_005591.4(MRE11):c.771A>G (p.Glu257=) rs13447632 0.00301
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
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.1780A>G (p.Arg594Gly) rs576878377 0.00001
NM_005591.4(MRE11):c.1098+17T>C rs1805365
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043

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