ClinVar Miner

List of variants studied for Cernunnos-XLF deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.390+18G>A rs6436120 0.92768
NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr) rs34689457 0.04477
NM_024782.3(NHEJ1):c.706+7C>A rs6720495 0.01626
NM_024782.3(NHEJ1):c.767A>T (p.Gln256Leu) rs35270667 0.01058
NM_024782.3(NHEJ1):c.258C>T (p.Asp86=) rs113689741 0.00240
NM_024782.3(NHEJ1):c.451A>C (p.Arg151=) rs141996352 0.00192
NM_024782.3(NHEJ1):c.707-7A>T rs150521220 0.00166
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 0.00058
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.747C>T (p.Ile249=) rs142143860 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.783C>G (p.Val261=) rs374469478 0.00010
NM_024782.3(NHEJ1):c.837C>A (p.Gly279=) rs145592698 0.00010
NM_024782.3(NHEJ1):c.748G>A (p.Asp250Asn) rs367766187 0.00009
NM_024782.3(NHEJ1):c.826-13C>T rs190480146 0.00009
NM_024782.3(NHEJ1):c.703G>A (p.Ala235Thr) rs375778719 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.706+19C>T rs377230843 0.00005
NM_024782.3(NHEJ1):c.896G>A (p.Ser299Asn) rs370636072 0.00005
NM_024782.3(NHEJ1):c.246A>G (p.Pro82=) rs369135579 0.00004
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.294T>C (p.Asp98=) rs192108106 0.00003
NM_024782.3(NHEJ1):c.441G>A (p.Gln147=) rs202229437 0.00003
NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met) rs756563868 0.00003
NM_024782.3(NHEJ1):c.468A>G (p.Leu156=) rs768115441 0.00003
NM_024782.3(NHEJ1):c.150C>T (p.Asp50=) rs772394806 0.00002
NM_024782.3(NHEJ1):c.326G>A (p.Arg109Gln) rs777365329 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.743G>C (p.Gly248Ala) rs199723096 0.00002
NM_024782.3(NHEJ1):c.112G>A (p.Val38Ile) rs1193921312 0.00001
NM_024782.3(NHEJ1):c.123T>G (p.Leu41=) rs1411468226 0.00001
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly) rs118204451 0.00001
NM_024782.3(NHEJ1):c.177+15A>C rs1949875690 0.00001
NM_024782.3(NHEJ1):c.177G>A (p.Lys59=) rs756996341 0.00001
NM_024782.3(NHEJ1):c.178-6C>G rs371463598 0.00001
NM_024782.3(NHEJ1):c.238C>T (p.Leu80Phe) rs1240091789 0.00001
NM_024782.3(NHEJ1):c.256G>A (p.Asp86Asn) rs976825540 0.00001
NM_024782.3(NHEJ1):c.270T>C (p.Pro90=) rs1559205342 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.390+9A>G rs1452334036 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.457C>T (p.Leu153=) rs754126015 0.00001
NM_024782.3(NHEJ1):c.513G>T (p.Gly171=) rs759426248 0.00001
NM_024782.3(NHEJ1):c.518C>T (p.Thr173Met) rs770861190 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.616G>A (p.Asp206Asn) rs1474143340 0.00001
NM_024782.3(NHEJ1):c.638A>G (p.Asn213Ser) rs2106320135 0.00001
NM_024782.3(NHEJ1):c.642G>A (p.Leu214=) rs774224764 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.702C>T (p.Gly234=) rs754484855 0.00001
NM_024782.3(NHEJ1):c.753C>T (p.Ser251=) rs769075999 0.00001
NM_024782.3(NHEJ1):c.781G>A (p.Val261Ile) rs963528619 0.00001
NM_024782.3(NHEJ1):c.794C>T (p.Pro265Leu) rs770425392 0.00001
NM_024782.3(NHEJ1):c.834A>C (p.Ser278=) rs112591281 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) rs1949876605
NM_024782.3(NHEJ1):c.13G>A (p.Glu5Lys) rs2469678267
NM_024782.3(NHEJ1):c.151A>G (p.Thr51Ala) rs748560680
NM_024782.3(NHEJ1):c.15G>A (p.Glu5=) rs2469678263
NM_024782.3(NHEJ1):c.177+1G>A rs2106369643
NM_024782.3(NHEJ1):c.178-11T>C rs1335578048
NM_024782.3(NHEJ1):c.178-1G>A rs1949868667
NM_024782.3(NHEJ1):c.191G>A (p.Arg64Gln) rs758194433
NM_024782.3(NHEJ1):c.200C>G (p.Ala67Gly) rs942212112
NM_024782.3(NHEJ1):c.205C>A (p.Pro69Thr) rs2469676373
NM_024782.3(NHEJ1):c.205C>G (p.Pro69Ala)
NM_024782.3(NHEJ1):c.219C>A (p.Leu73=) rs144535601
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) rs2469676299
NM_024782.3(NHEJ1):c.24G>A (p.Leu8=) rs747201918
NM_024782.3(NHEJ1):c.309A>C (p.Ala103=)
NM_024782.3(NHEJ1):c.329G>C (p.Ser110Thr) rs2469676025
NM_024782.3(NHEJ1):c.346C>G (p.Pro116Ala) rs1024943702
NM_024782.3(NHEJ1):c.369C>A (p.Cys123Ter) rs1949865586
NM_024782.3(NHEJ1):c.369C>T (p.Cys123=) rs1949865586
NM_024782.3(NHEJ1):c.381T>C (p.Ser127=) rs1282129524
NM_024782.3(NHEJ1):c.390+13C>T
NM_024782.3(NHEJ1):c.390+1G>A rs786205547
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=) rs1307549197
NM_024782.3(NHEJ1):c.438A>G (p.Leu146=) rs2106362357
NM_024782.3(NHEJ1):c.448G>A (p.Val150Met) rs758387082
NM_024782.3(NHEJ1):c.460G>A (p.Ala154Thr) rs766636405
NM_024782.3(NHEJ1):c.469C>T (p.Leu157Phe) rs2106362310
NM_024782.3(NHEJ1):c.475A>G (p.Met159Val) rs1404647524
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) rs775191124
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.526C>T (p.Arg176Ter) rs1304446470
NM_024782.3(NHEJ1):c.529+11A>G rs2106362226
NM_024782.3(NHEJ1):c.529+18G>C rs377105168
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.532C>T (p.Arg178Ter) rs118204453
NM_024782.3(NHEJ1):c.546del (p.Glu182fs) rs1430712125
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=) rs1180677426
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) rs757690167
NM_024782.3(NHEJ1):c.588+5G>A rs369012414
NM_024782.3(NHEJ1):c.589-11C>G rs2469545388
NM_024782.3(NHEJ1):c.589-14C>A rs1432657602
NM_024782.3(NHEJ1):c.589-14C>T rs1432657602
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=) rs541803549
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.641T>C (p.Leu214Pro) rs2106320129
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) rs776714106
NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs) rs2106320090
NM_024782.3(NHEJ1):c.67C>T (p.Leu23Phe) rs1443096443
NM_024782.3(NHEJ1):c.681A>G (p.Gln227=) rs1949031096
NM_024782.3(NHEJ1):c.684G>A (p.Val228=) rs2469545057
NM_024782.3(NHEJ1):c.701G>A (p.Gly234Asp) rs779328166
NM_024782.3(NHEJ1):c.706+13G>C rs1949030399
NM_024782.3(NHEJ1):c.706+15G>A rs757046280
NM_024782.3(NHEJ1):c.706+16G>A rs745329739
NM_024782.3(NHEJ1):c.706+16G>T rs745329739
NM_024782.3(NHEJ1):c.707-8G>A rs1574697770
NM_024782.3(NHEJ1):c.722C>T (p.Ser241Leu) rs2106319547
NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs) rs777740338
NM_024782.3(NHEJ1):c.75del (p.Lys26fs) rs1949876985
NM_024782.3(NHEJ1):c.762A>G (p.Val254=) rs2106319497
NM_024782.3(NHEJ1):c.765C>A (p.Asn255Lys) rs1949023269
NM_024782.3(NHEJ1):c.768G>C (p.Gln256His) rs149249203
NM_024782.3(NHEJ1):c.771A>G (p.Pro257=)
NM_024782.3(NHEJ1):c.777A>T (p.Gln259His) rs2469543517
NM_024782.3(NHEJ1):c.798C>T (p.Thr266=)
NM_024782.3(NHEJ1):c.805_806delinsTT (p.Ala269Leu) rs2106319460
NM_024782.3(NHEJ1):c.818A>C (p.Glu273Ala) rs2106319449
NM_024782.3(NHEJ1):c.825+20del rs763542065
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) rs2469678006
NM_024782.3(NHEJ1):c.9A>G (p.Glu3=) rs1392400000

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.