ClinVar Miner

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

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Total variants: 22
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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.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225 0.00001
NM_000051.4(ATM):c.1802+1del rs2497275396
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.4(ATM):c.2606C>A (p.Ala869Glu) rs145513717
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln) rs1555086041
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.5726T>A (p.Met1909Lys) rs542378165
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447

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