ClinVar Miner

List of variants in gene ATM reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 9
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HGVS dbSNP
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1564_1565delGA (p.Glu522Ilefs) rs587779817
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3403-15_3403-14insT rs1555091083
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707

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