ClinVar Miner

List of variants in gene ATM reported by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.3285-9delT rs1799757
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.902G>A (p.Gly301Asp) rs202208861

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