List of variants reported as pathogenic for Ataxia-telangiectasia syndrome by Counsyl

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		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	rs587781722	0.00021
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	rs780619951	0.00004
NM_000051.4(ATM):c.5763-1050A>G	rs774925473	0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	rs587779852	0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)	rs730881294	0.00003
NM_000051.4(ATM):c.3993+1G>A	rs200196781	0.00002
NM_000051.4(ATM):c.901+1G>A	rs748840480	0.00002
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)	rs749036865	0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)	rs879254093	0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	rs587779818	0.00001
NM_000051.4(ATM):c.3154-2A>G	rs730881357	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)	rs864622490	0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)	rs762083530	0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)	rs775036118	0.00001
NM_000051.4(ATM):c.7630-2A>C	rs587779866	0.00001
NM_000051.4(ATM):c.8988-1G>C	rs730881386	0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	rs121434219	0.00001
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	rs55861249
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000051.4(ATM):c.2113del (p.Tyr705fs)	rs863224822
NM_000051.4(ATM):c.2502dup (p.Val835fs)	rs587779822
NM_000051.4(ATM):c.2638+2T>C	rs587779826
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	rs587776549
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)	rs1057517129
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	rs587781831
NM_000051.4(ATM):c.3850del (p.Thr1284fs)	rs876660865
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)	rs730881369
NM_000051.4(ATM):c.4776+2T>C	rs587781927
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)	rs876660134
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)	rs876659454
NM_000051.4(ATM):c.6198+1G>A	rs778031266
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	rs772821016
NM_000051.4(ATM):c.7517_7520del	rs587781905
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter)	rs777925486
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)	rs1450394308
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)	rs1060504292
NM_000051.4(ATM):c.8432del (p.Lys2811fs)	rs587782558

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