List of variants reported as likely pathogenic for ataxia telangiectasia by Revvity Omics, Revvity

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Total variants: 13

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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.875C>T (p.Pro292Leu)	rs747727055	0.00001
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	rs786203054
NM_000051.4(ATM):c.4062del (p.Ala1355fs)	rs2135736779
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)	rs730881391
NM_000051.4(ATM):c.513C>T (p.Tyr171=)	rs786201693
NM_000051.4(ATM):c.5172dup (p.Asp1725fs)	rs2135893222
NM_000051.4(ATM):c.5178-1G>A	rs1555105579
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
NM_000051.4(ATM):c.6751del (p.Leu2251fs)
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)	rs864622163
NM_000051.4(ATM):c.8988-2A>G	rs786202087
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)	rs876660382

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