ClinVar Miner

List of variants in gene NHEJ1 studied for Cernunnos-XLF deficiency

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Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.390+18G>A rs6436120 0.92539
NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr) rs34689457 0.04477
NM_024782.3(NHEJ1):c.258C>T (p.Asp86=) rs113689741 0.00240
NM_024782.3(NHEJ1):c.451A>C (p.Arg151=) rs141996352 0.00196
NM_024782.3(NHEJ1):c.36A>G (p.Pro12=) rs138515231 0.00078
NM_024782.3(NHEJ1):c.560A>G (p.Asn187Ser) rs146861504 0.00068
NM_024782.3(NHEJ1):c.242G>A (p.Arg81His) rs140362488 0.00066
NM_024782.3(NHEJ1):c.57A>G (p.Ala19=) rs61757394 0.00047
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln) rs61753339 0.00034
NM_024782.3(NHEJ1):c.259G>A (p.Ala87Thr) rs150307533 0.00024
NM_024782.3(NHEJ1):c.860C>T (p.Ser287Leu) rs760280185 0.00014
NM_024782.3(NHEJ1):c.837C>A (p.Gly279=) rs145592698 0.00010
NM_024782.3(NHEJ1):c.703G>A (p.Ala235Thr) rs375778719 0.00008
NM_024782.3(NHEJ1):c.826-13C>T rs190480146 0.00008
NM_024782.3(NHEJ1):c.830C>T (p.Thr277Ile) rs145834367 0.00007
NM_024782.3(NHEJ1):c.229G>T (p.Asp77Tyr) rs774491145 0.00006
NM_024782.3(NHEJ1):c.30G>A (p.Met10Ile) rs370275980 0.00006
NM_024782.3(NHEJ1):c.41C>T (p.Ala14Val) rs747032828 0.00006
NM_024782.3(NHEJ1):c.896G>A (p.Ser299Asn) rs370636072 0.00005
NM_024782.3(NHEJ1):c.299T>C (p.Val100Ala) rs201186145 0.00004
NM_024782.3(NHEJ1):c.172G>T (p.Ala58Ser) rs142684479 0.00003
NM_024782.3(NHEJ1):c.441G>A (p.Gln147=) rs202229437 0.00003
NM_024782.3(NHEJ1):c.468A>G (p.Leu156=) rs768115441 0.00003
NM_024782.3(NHEJ1):c.326G>A (p.Arg109Gln) rs777365329 0.00002
NM_024782.3(NHEJ1):c.448G>A (p.Val150Met) rs758387082 0.00002
NM_024782.3(NHEJ1):c.465G>A (p.Thr155=) rs374664084 0.00002
NM_024782.3(NHEJ1):c.533G>A (p.Arg178Gln) rs1949744959 0.00002
NM_024782.3(NHEJ1):c.112G>A (p.Val38Ile) rs1193921312 0.00001
NM_024782.3(NHEJ1):c.256G>A (p.Asp86Asn) rs976825540 0.00001
NM_024782.3(NHEJ1):c.274G>A (p.Glu92Lys) rs754840549 0.00001
NM_024782.3(NHEJ1):c.351C>G (p.Phe117Leu) rs1249067213 0.00001
NM_024782.3(NHEJ1):c.390+14G>A rs760019180 0.00001
NM_024782.3(NHEJ1):c.391-4A>G rs766853125 0.00001
NM_024782.3(NHEJ1):c.417G>A (p.Leu139=) rs370231557 0.00001
NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met) rs756563868 0.00001
NM_024782.3(NHEJ1):c.529+8G>C rs376407655 0.00001
NM_024782.3(NHEJ1):c.529+9A>T rs749513419 0.00001
NM_024782.3(NHEJ1):c.557A>G (p.Glu186Gly) rs780016182 0.00001
NM_024782.3(NHEJ1):c.588+5G>A rs369012414 0.00001
NM_024782.3(NHEJ1):c.616G>A (p.Asp206Asn) rs1474143340 0.00001
NM_024782.3(NHEJ1):c.655A>G (p.Met219Val) rs771103739 0.00001
NM_024782.3(NHEJ1):c.700G>A (p.Gly234Ser) rs191958428 0.00001
NM_024782.3(NHEJ1):c.701G>A (p.Gly234Asp) rs779328166 0.00001
NM_024782.3(NHEJ1):c.702C>T (p.Gly234=) rs754484855 0.00001
NC_000002.11:g.(?_220011382)_(220011480_?)del
NM_024782.3(NHEJ1):c.108G>C (p.Leu36Phe) rs2106369733
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs) rs886037607
NM_024782.3(NHEJ1):c.122T>G (p.Leu41Arg)
NM_024782.3(NHEJ1):c.123T>G (p.Leu41=)
NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)
NM_024782.3(NHEJ1):c.13G>A (p.Glu5Lys)
NM_024782.3(NHEJ1):c.150C>T (p.Asp50=)
NM_024782.3(NHEJ1):c.151A>G (p.Thr51Ala)
NM_024782.3(NHEJ1):c.15G>A (p.Glu5=)
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly) rs118204451
NM_024782.3(NHEJ1):c.169C>T (p.Arg57Ter) rs118204451
NM_024782.3(NHEJ1):c.16C>T (p.Gln6Ter)
NM_024782.3(NHEJ1):c.177+15A>C
NM_024782.3(NHEJ1):c.177+1G>A
NM_024782.3(NHEJ1):c.177+1_177+3delinsTT rs886037606
NM_024782.3(NHEJ1):c.177G>A (p.Lys59=) rs756996341
NM_024782.3(NHEJ1):c.178-11T>C rs1335578048
NM_024782.3(NHEJ1):c.178-1G>A rs1949868667
NM_024782.3(NHEJ1):c.178-6C>G
NM_024782.3(NHEJ1):c.191G>A (p.Arg64Gln)
NM_024782.3(NHEJ1):c.1A>G (p.Met1Val)
NM_024782.3(NHEJ1):c.200C>G (p.Ala67Gly)
NM_024782.3(NHEJ1):c.205C>A (p.Pro69Thr)
NM_024782.3(NHEJ1):c.205C>G (p.Pro69Ala)
NM_024782.3(NHEJ1):c.219C>A (p.Leu73=)
NM_024782.3(NHEJ1):c.219C>G (p.Leu73=) rs144535601
NM_024782.3(NHEJ1):c.226T>C (p.Leu76=)
NM_024782.3(NHEJ1):c.230A>G (p.Asp77Gly)
NM_024782.3(NHEJ1):c.233dup (p.Asn78fs)
NM_024782.3(NHEJ1):c.236T>C (p.Leu79Pro)
NM_024782.3(NHEJ1):c.238C>T (p.Leu80Phe)
NM_024782.3(NHEJ1):c.246A>G (p.Pro82=)
NM_024782.3(NHEJ1):c.24G>A (p.Leu8=)
NM_024782.3(NHEJ1):c.270T>C (p.Pro90=)
NM_024782.3(NHEJ1):c.294T>C (p.Asp98=)
NM_024782.3(NHEJ1):c.309A>C (p.Ala103=)
NM_024782.3(NHEJ1):c.329G>C (p.Ser110Thr)
NM_024782.3(NHEJ1):c.346C>G (p.Pro116Ala) rs1024943702
NM_024782.3(NHEJ1):c.348dup (p.Phe117fs)
NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg) rs118204452
NM_024782.3(NHEJ1):c.369C>A (p.Cys123Ter) rs1949865586
NM_024782.3(NHEJ1):c.369C>T (p.Cys123=)
NM_024782.3(NHEJ1):c.381T>C (p.Ser127=)
NM_024782.3(NHEJ1):c.390+13C>T
NM_024782.3(NHEJ1):c.390+1G>A
NM_024782.3(NHEJ1):c.390+9A>G
NM_024782.3(NHEJ1):c.401A>G (p.His134Arg) rs2106362378
NM_024782.3(NHEJ1):c.42G>A (p.Ala14=) rs1307549197
NM_024782.3(NHEJ1):c.42G>T (p.Ala14=)
NM_024782.3(NHEJ1):c.438A>G (p.Leu146=) rs2106362357
NM_024782.3(NHEJ1):c.457C>T (p.Leu153=)
NM_024782.3(NHEJ1):c.460G>A (p.Ala154Thr)
NM_024782.3(NHEJ1):c.469C>T (p.Leu157Phe) rs2106362310
NM_024782.3(NHEJ1):c.475A>G (p.Met159Val)
NM_024782.3(NHEJ1):c.47T>C (p.Leu16Pro)
NM_024782.3(NHEJ1):c.499T>C (p.Tyr167His) rs762584679
NM_024782.3(NHEJ1):c.500A>G (p.Tyr167Cys)
NM_024782.3(NHEJ1):c.501C>A (p.Tyr167Ter)
NM_024782.3(NHEJ1):c.506A>G (p.Glu169Gly) rs1244437243
NM_024782.3(NHEJ1):c.513G>C (p.Gly171=) rs759426248
NM_024782.3(NHEJ1):c.513G>T (p.Gly171=) rs759426248
NM_024782.3(NHEJ1):c.518C>T (p.Thr173Met)
NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)
NM_024782.3(NHEJ1):c.529+11A>G rs2106362226
NM_024782.3(NHEJ1):c.529+18G>C
NM_024782.3(NHEJ1):c.529+1G>A rs146783338
NM_024782.3(NHEJ1):c.52C>G (p.Leu18Val) rs2106369790
NM_024782.3(NHEJ1):c.530-1G>A rs1481152382
NM_024782.3(NHEJ1):c.530-2A>T rs1064793763
NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter) rs118204453
NM_024782.3(NHEJ1):c.546del (p.Glu182fs)
NM_024782.3(NHEJ1):c.547C>T (p.Pro183Ser) rs372722590
NM_024782.3(NHEJ1):c.553G>A (p.Glu185Lys) rs2106361576
NM_024782.3(NHEJ1):c.558A>G (p.Glu186=)
NM_024782.3(NHEJ1):c.567C>T (p.Phe189=)
NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT (p.Leu190fs)
NM_024782.3(NHEJ1):c.577T>C (p.Phe193Leu) rs2106361542
NM_024782.3(NHEJ1):c.584T>C (p.Ile195Thr)
NM_024782.3(NHEJ1):c.589-11C>G
NM_024782.3(NHEJ1):c.589-14C>A rs1432657602
NM_024782.3(NHEJ1):c.589-14C>T
NM_024782.3(NHEJ1):c.589-2A>G rs753495484
NM_024782.3(NHEJ1):c.589-6T>A rs2106320191
NM_024782.3(NHEJ1):c.589-7C>G rs2106320193
NM_024782.3(NHEJ1):c.597A>G (p.Pro199=) rs1259490602
NM_024782.3(NHEJ1):c.599A>C (p.Glu200Ala) rs2106320174
NM_024782.3(NHEJ1):c.600G>A (p.Glu200=)
NM_024782.3(NHEJ1):c.603A>G (p.Ala201=) rs2106320167
NM_024782.3(NHEJ1):c.606C>T (p.Cys202=) rs2106320164
NM_024782.3(NHEJ1):c.638A>G (p.Asn213Ser) rs2106320135
NM_024782.3(NHEJ1):c.641T>C (p.Leu214Pro) rs2106320129
NM_024782.3(NHEJ1):c.642G>A (p.Leu214=) rs774224764
NM_024782.3(NHEJ1):c.642G>T (p.Leu214=) rs774224764
NM_024782.3(NHEJ1):c.643C>T (p.Gln215Ter) rs1553542017
NM_024782.3(NHEJ1):c.653A>G (p.Tyr218Cys)
NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs) rs2106320090
NM_024782.3(NHEJ1):c.67C>T (p.Leu23Phe)
NM_024782.3(NHEJ1):c.681A>G (p.Gln227=) rs1949031096
NM_024782.3(NHEJ1):c.684G>A (p.Val228=)
NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)
NM_024782.3(NHEJ1):c.75del (p.Lys26fs)
NM_024782.3(NHEJ1):c.834A>C (p.Ser278=)
NM_024782.3(NHEJ1):c.842T>C (p.Leu281Pro) rs1375879411
NM_024782.3(NHEJ1):c.895A>G (p.Ser299Gly) rs2106318888
NM_024782.3(NHEJ1):c.94C>T (p.Gln32Ter)
NM_024782.3(NHEJ1):c.9A>G (p.Glu3=) rs1392400000

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