List of variants reported as pathogenic for ataxia telangiectasia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1236-2A>T	rs80159221	0.00008
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	rs587779852	0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00004
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	rs564652222	0.00001
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer)	rs1565543844

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