ClinVar Miner

List of variants in gene ATM reported as likely pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2466+1552G>C rs963653732 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.186-1G>A rs1259911051 0.00001
NM_000051.4(ATM):c.2376+3A>T rs758083563 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.3078-17A>G rs2081636353 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3994-159A>G rs864622543 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000051.3:c.2839-3insALU
NM_000051.3:c.3167_3168insALU
NM_000051.3:c.435_436insALU
NM_000051.3:c.4479_4480insL1
NM_000051.3:c.5770_5771insALU
NM_000051.3:c.5889_5890insALU
NM_000051.3:c.7374_7375insAlu
NM_000051.4(ATM):c.1065+1G>C rs201089102
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1066-1G>A rs876660038
NM_000051.4(ATM):c.1066-2A>T rs1555069514
NM_000051.4(ATM):c.1066-3_1072del rs1591517089
NM_000051.4(ATM):c.1236-1G>C rs1408719214
NM_000051.4(ATM):c.1236-2del rs1565381646
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser) rs1555071109
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.4(ATM):c.1607+1del
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1803-1G>A
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.186-1G>T
NM_000051.4(ATM):c.186-1del
NM_000051.4(ATM):c.1899-1G>T rs1555073065
NM_000051.4(ATM):c.1899-20A>C
NM_000051.4(ATM):c.2124+1G>A rs1555073553
NM_000051.4(ATM):c.2124+1G>T rs1555073553
NM_000051.4(ATM):c.2125-2A>G
NM_000051.4(ATM):c.2125-910T>G
NM_000051.4(ATM):c.2149C>A (p.Arg717=) rs147515380
NM_000051.4(ATM):c.2250+2T>C rs1555075037
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-1G>C rs876659710
NM_000051.4(ATM):c.2251-2A>C
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2376+1G>C rs730881347
NM_000051.4(ATM):c.2376+2dup
NM_000051.4(ATM):c.2376G>A (p.Lys792=) rs754267376
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg) rs864622412
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+5G>A rs1064795969
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2467-2A>T rs1555082050
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2638+1del rs1131691153
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2639-7_2639-2del
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2839-2A>G rs1060501703
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg) rs2135551484
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser) rs1591604769
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3077+1G>T rs192810283
NM_000051.4(ATM):c.3078-2A>G
NM_000051.4(ATM):c.3078-5T>C rs1565427457
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.4(ATM):c.3093G>T (p.Glu1031Asp)
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3154-1G>T rs1555085973
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+1G>C rs864622129
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.331+2800A>G
NM_000051.4(ATM):c.331+2_331+7del
NM_000051.4(ATM):c.332-1G>C
NM_000051.4(ATM):c.3402+1G>A rs1565439606
NM_000051.4(ATM):c.3402+2T>C rs876659430
NM_000051.4(ATM):c.3402+3A>C rs786203688
NM_000051.4(ATM):c.3403-1G>A rs1555091120
NM_000051.4(ATM):c.3576+1G>A rs876660621
NM_000051.4(ATM):c.3576+1G>T rs876660621
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3576_3576+7del
NM_000051.4(ATM):c.3577-1G>A
NM_000051.4(ATM):c.3577-1G>T
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly) rs1555092445
NM_000051.4(ATM):c.3746+1G>T rs2082309297
NM_000051.4(ATM):c.3747-1G>A rs730881364
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser) rs2082382534
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
NM_000051.4(ATM):c.3993+2T>A
NM_000051.4(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.4(ATM):c.3994-160T>C rs2082548304
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.4109+1G>A rs879254034
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4109+5G>A rs2082568277
NM_000051.4(ATM):c.4110-1G>C rs1060501692
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.434T>G (p.Leu145Arg) rs1555059346
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4435_4436+10del
NM_000051.4(ATM):c.4436+2T>C rs1555097898
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys) rs2135767002
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4612-3_4616del rs773012957
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly) rs1565466579
NM_000051.4(ATM):c.4905_4909+16del
NM_000051.4(ATM):c.4909+1G>T rs756987454
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+286A>G
NM_000051.4(ATM):c.496+334A>G
NM_000051.4(ATM):c.497-1142dup
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.5177+2T>C
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-1G>T rs1555105579
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg) rs1060501571
NM_000051.4(ATM):c.5309C>T (p.Ser1770Leu)
NM_000051.4(ATM):c.5319+1G>A rs876660175
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal)
NM_000051.4(ATM):c.5496+1G>A rs879254180
NM_000051.4(ATM):c.5496+2T>G rs1591713093
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5496+645T>G
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5675-3C>G rs876658545
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5762G>A (p.Arg1921Lys)
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
NM_000051.4(ATM):c.661A>T (p.Arg221Ter)
NM_000051.4(ATM):c.662+1G>A rs1060501690
NM_000051.4(ATM):c.663-2A>G rs886041931
NM_000051.4(ATM):c.663-3_663-2del
NM_000051.4(ATM):c.72+1del
NM_000051.4(ATM):c.73-1G>A rs1555054043
NM_000051.4(ATM):c.73-3C>G rs1555054039
NM_000051.4(ATM):c.902-1G>A rs1064793518
Single allele

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