ClinVar Miner

List of variants in gene ATM reported as pathogenic by OMIM

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Total variants: 12
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HGVS dbSNP
ATM, IVS61DS, 2-BP INS, +2TA
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.4081C>T (p.Gln1361Ter) rs121434222
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.5044G>C (p.Asp1682His) rs121434217
NM_000051.3(ATM):c.5309C>G (p.Ser1770Ter) rs121434223

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