List of variants studied for ataxia telangiectasia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00004
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	rs786204433	0.00001
NM_000051.4(ATM):c.1743dup (p.Phe582fs)
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)	rs768362387
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)	rs2081667850
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_000051.4(ATM):c.6228del (p.Leu2077fs)	rs786203008
NM_000051.4(ATM):c.7629+1G>A	rs1565532703
NM_000051.4(ATM):c.7674dup (p.Ile2559fs)
NM_000051.4(ATM):c.8031T>G (p.Tyr2677Ter)

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