ClinVar Miner

List of variants in gene ATM reported by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653

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