List of variants reported as pathogenic for ataxia telangiectasia by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 9

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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.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.1235+3A>G	rs1417190414	0.00001
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000051.4(ATM):c.5177+5G>A	rs759373136
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)	rs879254076
NM_000051.4(ATM):c.6205C>T (p.Gln2069Ter)	rs1555114563
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)	rs769166447
NM_000051.4(ATM):c.7469dup (p.Trp2491fs)	rs1591161290

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