List of variants reported as likely pathogenic for Ataxia-telangiectasia-like disorder by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_005591.4(MRE11):c.1867+2T>C	rs745677716	0.00002
NM_005591.4(MRE11):c.545-1G>A	rs1451215042	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
NM_005591.4(MRE11):c.402+1G>A	rs929767929	0.00001
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)	rs372068015	0.00001
NC_000011.10:g.(?_94476279)_(94479771_?)del
NC_000011.9:g.(?_94194092)_(94212937_?)dup
NC_000011.9:g.(?_94200959)_(94204945_?)dup
NC_000011.9:g.(?_94209449)_(94212048_?)dup
NM_005591.4(MRE11):c.1017+1G>A	rs2496481690
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	rs1946353272
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	rs2496208006
NM_005591.4(MRE11):c.20+2T>C	rs2531482062
NM_005591.4(MRE11):c.21-6_26del	rs587780138
NM_005591.4(MRE11):c.314+1G>A	rs2496618496
NM_005591.4(MRE11):c.314+4_314+7del
NM_005591.4(MRE11):c.315-1G>A	rs866104898
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	rs2496485739

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