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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000051.4(ATM):c.7630-2A>C	rs587779866	0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	0.00001
NM_000051.4(ATM):c.1A>C (p.Met1Leu)	rs730881359
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)	rs869312755
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)	rs886039666
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)	rs797045030
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)	rs532480170
NM_000051.4(ATM):c.6452+1G>T	rs1565509194
NM_000051.4(ATM):c.8152-1G>A	rs1398616877
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8655dup (p.Val2886fs)	rs753961188

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