List of variants studied for ataxia-telangiectasia-like disorder 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005591.3(MRE11):c.-178G>A	rs1805360	0.03996
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.2092A>G (p.Met698Val)	rs1805362	0.00548
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.822T>C (p.Leu274=)	rs137868143	0.00152
NM_005591.4(MRE11):c.426C>T (p.Asp142=)	rs3218740	0.00109
NM_005591.4(MRE11):c.846-12T>C	rs587780145	0.00003
NM_005591.4(MRE11):c.1225+10T>G	rs863224734	0.00001
NM_005591.4(MRE11):c.1110T>G (p.Ser370Arg)
NM_005591.4(MRE11):c.660-6A>G	rs1946722633
NM_005591.4(MRE11):c.845+9T>C

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