ClinVar Miner

List of variants reported as likely pathogenic for ataxia-telangiectasia-like disorder by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1867+2T>C rs745677716 0.00002
NM_005591.4(MRE11):c.402+1G>A rs929767929 0.00002
NM_005591.4(MRE11):c.545-1G>A rs1451215042 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_005591.4(MRE11):c.1225+2T>A rs145058858 0.00001
NM_005591.4(MRE11):c.1326+2T>G rs1475506136 0.00001
NM_005591.4(MRE11):c.1563+1G>A rs1381679718 0.00001
NM_005591.4(MRE11):c.315-2A>G rs876659145 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NC_000011.10:g.(?_94476279)_(94479771_?)del
NC_000011.9:g.(?_94194092)_(94212937_?)dup
NC_000011.9:g.(?_94209449)_(94212048_?)dup
NM_005591.4(MRE11):c.1017+1G>A
NM_005591.4(MRE11):c.1098+2T>C rs876659343
NM_005591.4(MRE11):c.1225_1225+1delinsCA rs2134999194
NM_005591.4(MRE11):c.1327-2A>G rs878854776
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys) rs137852762
NM_005591.4(MRE11):c.1500+1G>A
NM_005591.4(MRE11):c.1500+2del rs2134989336
NM_005591.4(MRE11):c.153+1G>T rs1195401812
NM_005591.4(MRE11):c.1927-1G>T rs1295485913
NM_005591.4(MRE11):c.1927-2A>G rs587781822
NM_005591.4(MRE11):c.1994+1G>A
NM_005591.4(MRE11):c.20+2T>C
NM_005591.4(MRE11):c.21-6_26del rs587780138
NM_005591.4(MRE11):c.314+1G>A
NM_005591.4(MRE11):c.314+4_314+7del
NM_005591.4(MRE11):c.315-1G>A
NM_005591.4(MRE11):c.402+2_402+3delinsGGG rs1555015413
NM_005591.4(MRE11):c.845+2T>A rs587781381
NM_005591.4(MRE11):c.846-1G>T

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