ClinVar Miner

List of variants in gene ATM reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
GRCh37/hg19 11q22.3(chr11:108188097-108188249)x0
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs) rs1060501529
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter) rs2080118610
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.257del (p.Thr86fs)
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.349del (p.Cys117fs)
NM_000051.4(ATM):c.37_49del (p.Arg13fs)
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.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4769del (p.Leu1590fs) rs2546932598
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.492G>A (p.Trp164Ter) rs1555059530
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5178del (p.Cys1726fs) rs2546972613
NM_000051.4(ATM):c.5554dup (p.Gln1852fs) rs1555107356
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.945dup (p.Tyr316fs) rs2135265770

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