List of variants reported as pathogenic for ataxia telangiectasia by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.6347+1G>A	rs1057517120	0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	rs587779865	0.00001
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)	rs763470424
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800

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