ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.*3393G>T rs4585 0.53241
NM_000051.4(ATM):c.*1604C>T rs227091 0.51797
NM_000051.4(ATM):c.*548G>T rs227092 0.51711
NM_000051.4(ATM):c.*3072C>T rs3092844 0.06203
NM_000051.4(ATM):c.*551T>C rs143531724 0.03007
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.*1427T>C rs3092836 0.02459
NM_000051.4(ATM):c.*2199C>G rs75959910 0.02227
NM_000051.4(ATM):c.*2220A>G rs75293772 0.02223
NM_000051.4(ATM):c.*1882C>G rs80226715 0.01757
NM_000051.4(ATM):c.*371A>G rs3092835 0.01507
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.*3093C>T rs79807288 0.01336
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.*684T>G rs3092837 0.01076
NM_000051.4(ATM):c.*1799C>T rs114847811 0.00725
NM_000051.4(ATM):c.*2080C>T rs142456486 0.00675
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.*44A>G rs55900855 0.00643
NM_000051.4(ATM):c.*236C>T rs3092834 0.00640
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*779T>G rs78327467 0.00604
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000051.4(ATM):c.*1974C>G rs148781946 0.00368
NM_000051.4(ATM):c.*3136A>G rs3092845 0.00242
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.*2866T>C rs191399133 0.00142
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.*3413T>C rs4987114 0.00100
NM_000051.4(ATM):c.*3198T>G rs764033869 0.00089
NM_000051.4(ATM):c.*521del rs886047615 0.00062
NM_000051.4(ATM):c.*2607T>C rs879796523 0.00055
NM_000051.4(ATM):c.*2224C>T rs139245552 0.00043
NM_000051.4(ATM):c.*540A>C rs868594741 0.00042
NM_000051.4(ATM):c.*1641G>A rs978143944 0.00041
NM_000051.4(ATM):c.*2362T>C rs185852664 0.00040
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.*1520C>T rs112426029 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.*3022C>G rs145076930 0.00022
NM_000051.4(ATM):c.*1571C>T rs886047621 0.00021
NM_000051.4(ATM):c.*2479G>A rs778439888 0.00020
NM_000051.4(ATM):c.*223G>A rs536067082 0.00019
NM_000051.4(ATM):c.*2957G>C rs770767475 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.*2756T>C rs754992709 0.00018
NM_000051.4(ATM):c.*2563C>T rs146547907 0.00017
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.*3204G>A rs181377742 0.00016
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000051.4(ATM):c.*509G>A rs1329700897 0.00013
NM_000051.4(ATM):c.*703G>A rs118179262 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.*1670G>A rs886047623 0.00009
NM_000051.4(ATM):c.*2153G>A rs1021493177 0.00009
NM_000051.4(ATM):c.*712A>G rs966180034 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.8851-3T>G rs748874219 0.00009
NM_000051.4(ATM):c.*1768C>T rs551571814 0.00008
NM_000051.4(ATM):c.*1272C>G rs376572054 0.00007
NM_000051.4(ATM):c.*3091G>A rs886047629 0.00006
NM_000051.4(ATM):c.*222C>T rs760852487 0.00005
NM_000051.4(ATM):c.*3579T>G rs912006598 0.00004
NM_000051.4(ATM):c.*690T>C rs751932227 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000051.4(ATM):c.*534A>C rs957324830 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val) rs368666328 0.00003
NM_000051.4(ATM):c.*2780C>T rs1246719124 0.00002
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe) rs752652869 0.00002
NM_000051.4(ATM):c.*1640C>T rs886047622 0.00001
NM_000051.4(ATM):c.*244G>A rs1280155397 0.00001
NM_000051.4(ATM):c.*3325A>G rs886047630 0.00001
NM_000051.4(ATM):c.*605G>A rs2091314734 0.00001
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His) rs199586999 0.00001
NM_000051.4(ATM):c.6095+5A>G rs757328753 0.00001
NM_000051.4(ATM):c.6318T>C (p.Asn2106=) rs864622730 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000051.4(ATM):c.*1204C>G rs2091350922
NM_000051.4(ATM):c.*1407G>A rs2091360907
NM_000051.4(ATM):c.*1431C>A rs2091362279
NM_000051.4(ATM):c.*1960del rs886047624
NM_000051.4(ATM):c.*238G>C rs2091280654
NM_000051.4(ATM):c.*2541_*2543del rs886047625
NM_000051.4(ATM):c.*2714dup rs532373195
NM_000051.4(ATM):c.*2779del rs886047627
NM_000051.4(ATM):c.*2824G>A rs2091439619
NM_000051.4(ATM):c.*2865G>A rs568150944
NM_000051.4(ATM):c.*2926T>C rs2091445014
NM_000051.4(ATM):c.*2935C>G rs886047628
NM_000051.4(ATM):c.*306C>G rs2091287759
NM_000051.4(ATM):c.*3354T>G rs886047631
NM_000051.4(ATM):c.*3386T>A rs754664818
NM_000051.4(ATM):c.*537A>C rs910689990
NM_000051.4(ATM):c.*540del rs369583811
NM_000051.4(ATM):c.*540dup rs369583811
NM_000051.4(ATM):c.*541_*542del rs886047618
NM_000051.4(ATM):c.*541del rs886047619
NM_000051.4(ATM):c.*627A>G rs1014149927
NM_000051.4(ATM):c.*795C>T rs2091326775
NM_000051.4(ATM):c.*895dup rs200629108
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6453-15C>T rs763296454
NM_000051.4(ATM):c.6798G>C (p.Lys2266Asn) rs2136318895
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6962C>A (p.Ala2321Asp) rs1383763069
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7846A>G (p.Met2616Val) rs876658208
NM_000051.4(ATM):c.8138G>A (p.Arg2713Lys) rs876659351
NM_000051.4(ATM):c.8481T>G (p.Phe2827Leu) rs886047614
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582

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