ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8671+104T>C rs227075 0.62224
NM_000051.4(ATM):c.8850+60A>G rs664143 0.61921
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.8851-973A>C rs170548 0.27178
NM_000051.4(ATM):c.8010+186C>T rs227060 0.26885
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.6573-36C>T rs759869598 0.02433
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.*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.8419-19A>G rs12279930 0.00824
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.5793T>C (p.Ala1931=) rs3092910 0.00608
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.6573-30C>T rs775413448 0.00345
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
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.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
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.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.*540del rs369583811
NM_000051.4(ATM):c.5918+21del rs1350577892
NM_000051.4(ATM):c.5948= (p.Ser1983=) rs659243
NM_000051.4(ATM):c.5948G>A (p.Ser1983Asn) rs659243
NM_000051.4(ATM):c.6007-27C>T rs1164649351
NM_000051.4(ATM):c.6007-30C>T rs1425802573
NM_000051.4(ATM):c.6007-33C>T rs1191788183
NM_000051.4(ATM):c.6007-34C>T rs1591775892
NM_000051.4(ATM):c.6067G>C (p.Gly2023Arg)
NM_000051.4(ATM):c.6198+11del
NM_000051.4(ATM):c.6198+11dup rs2136133315
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6347+31dup rs58978479
NM_000051.4(ATM):c.6453-9del
NM_000051.4(ATM):c.6453-9dup
NM_000051.4(ATM):c.6573-23G>T rs1591127987
NM_000051.4(ATM):c.6573-26C>A rs1591127920
NM_000051.4(ATM):c.6573-31G>T rs1274213878
NM_000051.4(ATM):c.6573-31_6573-30del rs1216821271
NM_000051.4(ATM):c.6573-34C>T rs767824695
NM_000051.4(ATM):c.6573-37_6573-36insTTTTTT rs1591127671
NM_000051.4(ATM):c.6573-41_6573-40del rs758339884
NM_000051.4(ATM):c.6573-41del rs1271045298
NM_000051.4(ATM):c.6573-42_6573-41del rs1347499229
NM_000051.4(ATM):c.6808-72ATT[4] rs3212322
NM_000051.4(ATM):c.6975+13del rs763287238
NM_000051.4(ATM):c.6975+13dup rs763287238
NM_000051.4(ATM):c.6976-16dup
NM_000051.4(ATM):c.7090-8del rs2136409048
NM_000051.4(ATM):c.7516-9del rs573494809
NM_000051.4(ATM):c.7516-9dup rs573494809
NM_000051.4(ATM):c.7630-29G>T rs1591170490
NM_000051.4(ATM):c.7630-37G>T rs1591170392
NM_000051.4(ATM):c.7789-15G>T rs781449587
NM_000051.4(ATM):c.7927+13del rs587781324
NM_000051.4(ATM):c.7927+13dup rs587781324
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000051.4(ATM):c.8786+90G>A rs179108
NM_000051.4(ATM):c.8787-55C>T rs664982
NM_000051.4(ATM):c.8850+12dup rs1555143639

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