ClinVar Miner

List of variants in gene ATM reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1528_1529insTAAG (p.Ala510fs) rs2080115075
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.2091del (p.Leu697fs)
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2467-1G>A rs1328985852
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2910_2921+10del
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs) rs1555084947
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.331+2T>C rs1555055358
NM_000051.4(ATM):c.3542_3543del (p.Lys1181fs) rs746598992
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3631del (p.Ala1211fs) rs1064795885
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs) rs2135760623
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4358del (p.Ile1453fs) rs2082679287
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) rs1555103301
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.829del (p.Glu277fs)
NM_000051.4(ATM):c.845T>G (p.Leu282Ter) rs2135242595

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