ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1225+19T>C rs641936 0.35546
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
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 0.00828
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.771A>G (p.Glu257=) rs13447632 0.00293
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
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 0.00083
NM_005591.4(MRE11):c.845+11T>C rs140145979 0.00054
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00032
NM_005591.4(MRE11):c.81G>A (p.Glu27=) rs190031653 0.00006
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.1784-16T>G
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043
NM_005591.4(MRE11):c.315-5_315-4dup rs35062043

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