ClinVar Miner

List of variants in gene ATM reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.1898+2T>G rs587782124 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.147_148insG (p.Lys50fs) rs2496896960
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4612-2A>C rs1555100347
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.496+334A>G rs1227216618
NM_000051.4(ATM):c.497-2_499del rs2079694684
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447

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