ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5919-1del rs2084240759
NM_000051.4(ATM):c.6006+1G>C rs786202016
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6572+1G>T rs587779856
NM_000051.4(ATM):c.6808-1G>C rs2085644916
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8152-2A>G rs777602049
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8269-1G>C rs1565557607
NM_000051.4(ATM):c.8419-1G>C rs1555137920
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.4(ATM):c.8850+1G>A rs1555143620
NM_000051.4(ATM):c.8851-1G>A rs1057516537
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter) rs2137911487
NM_000051.4(ATM):c.9057_9058dup (p.Val3020fs) rs2137913928
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058

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