List of variants reported as pathogenic for Ataxia-telangiectasia syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 5

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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.1931C>G (p.Ser644Ter)	rs768362387
NM_000051.4(ATM):c.331+5G>A	rs752135143
NM_000051.4(ATM):c.6228del (p.Leu2077fs)	rs786203008

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