ClinVar Miner

List of variants in gene ATM reported by Cancer Genomics Group, Japanese Foundation For Cancer Research

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.1741T>G (p.Leu581Val) rs876659822 0.00001
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val) rs199885813 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.4(ATM):c.242dup (p.Asn81fs) rs1591451795
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.3778G>A (p.Val1260Met) rs587782035
NM_000051.4(ATM):c.4313T>G (p.Ile1438Ser) rs1591663009
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.686T>C (p.Leu229Pro) rs1591503381

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