ClinVar Miner

List of variants in gene ATM reported by Neuberg Centre For Genomic Medicine, NCGM

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00025
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172 0.00005
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00002
NM_000051.4(ATM):c.127C>G (p.Leu43Val) rs772591447 0.00001
NM_000051.4(ATM):c.1363G>A (p.Val455Met) rs368879876 0.00001
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe) rs538105098 0.00001
NM_000051.4(ATM):c.3257G>A (p.Arg1086His) rs769857066 0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4549C>T (p.Leu1517Phe) rs754058482 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5178-2A>G rs2135911500 0.00001
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225 0.00001
NM_000051.4(ATM):c.1235+2T>A
NM_000051.4(ATM):c.1802+1del rs2497275396
NM_000051.4(ATM):c.1943_1944insG (p.Glu649fs)
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.4(ATM):c.2466+2T>A rs878853495
NM_000051.4(ATM):c.2606C>A (p.Ala869Glu) rs145513717
NM_000051.4(ATM):c.2674A>T (p.Lys892Ter)
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln) rs1555086041
NM_000051.4(ATM):c.3977del (p.Asn1326fs)
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5726T>A (p.Met1909Lys) rs542378165
NM_000051.4(ATM):c.742C>G (p.Arg248Gly) rs730881336
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.901+2T>G rs1218815157

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