ClinVar Miner

List of variants reported as benign for ataxia-telangiectasia-like disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
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.*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_005591.4(MRE11):c.*2067A>G rs13447755 0.00598
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_001195248.2(APTX):c.484-12T>G rs1981011

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