ClinVar Miner

List of variants reported as benign for ataxia-telangiectasia-like disorder

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.874+84G>A rs4878522 0.97554
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_001195248.2(APTX):c.-5+116G>T rs1197774 0.59987
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_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
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_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_005591.4(MRE11):c.*2067A>G rs13447755 0.00598
NM_005591.4(MRE11):c.2071-53G>T rs13447742 0.00597
NM_001195248.2(APTX):c.*187G>C rs113638548 0.00570
NM_001195248.2(APTX):c.*806G>A rs113556331 0.00570
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001195248.2(APTX):c.*606G>A rs111430445 0.00567
NM_001195248.2(APTX):c.*454G>C rs138490250 0.00563
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_001195248.2(APTX):c.*756G>A rs115295647 0.00544
NM_001195248.2(APTX):c.*141G>A rs148292963 0.00452
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.121G>A (p.Asp41Asn) rs116679717 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 0.00109
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.81G>A (p.Glu27=) rs190031653 0.00006
NM_005591.4(MRE11):c.1784-16T>G rs200718476 0.00004
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly) rs576878377 0.00001
NM_001195248.2(APTX):c.484-12T>G rs1981011
NM_001195248.2(APTX):c.484-25_484-4del rs778542759
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-25_484-6del rs771925873
NM_001195248.2(APTX):c.771-12dup rs34600530
NM_005591.4(MRE11):c.1098+17T>C rs1805365
NM_005591.4(MRE11):c.154-12dup
NM_005591.4(MRE11):c.1563+13C>T
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
NM_005591.4(MRE11):c.402+14del
NM_005591.4(MRE11):c.659+11del

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