ClinVar Miner

List of variants reported as likely pathogenic for Ataxia-telangiectasia syndrome by Illumina Laboratory Services, Illumina

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.1355del (p.Thr452fs)	rs587781776
NM_000051.4(ATM):c.4109+1G>T	rs879254034
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	rs759965045

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