List of variants reported as pathogenic for ataxia telangiectasia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)	rs762083530	0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	rs121434219	0.00001
NM_000051.4(ATM):c.1838del (p.Val613fs)	rs2135353661
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)	rs1555075781
NM_000051.4(ATM):c.478_482del (p.Ser160fs)	rs587780624
NM_000051.4(ATM):c.6725C>A (p.Ser2242Ter)
NM_000051.4(ATM):c.7288del (p.His2430fs)	rs2136423257

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