List of variants studied for Ataxia-telangiectasia syndrome by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00139
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.3(ATM):c.2839-579_2839-576del	rs587776552
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	rs55861249
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	rs587776549
NM_000051.4(ATM):c.4776+2T>C	rs587781927
NM_000051.4(ATM):c.7279_7284del (p.Leu2427_Arg2428del)	rs796051856
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	rs121434220
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)	rs1450394308
NM_000051.4(ATM):c.7988_7991del (p.Val2663fs)	rs587776550
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)	rs786203976

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