ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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.1098+17T>C rs1805365
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043

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