ClinVar Miner

List of variants reported as uncertain significance for anauxetic dysplasia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 466
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NC_000009.12:g.35658052C>G rs775290179 0.00024
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
NC_000009.12:g.35657748_35657749insG rs1223012271 0.00021
NC_000009.12:g.35657749A>G rs551655682 0.00021
NR_003051.4(RMRP):n.59_60insA rs1053360711 0.00021
NR_003051.4(RMRP):n.2G>A rs773520232 0.00019
NC_000009.12:g.35658116T>C rs750722147 0.00017
NR_003051.4(RMRP):n.92A>C rs752723025 0.00017
NR_003051.4(RMRP):n.160A>G rs535595484 0.00016
NC_000009.12:g.35658036G>C rs775303012 0.00015
NC_000009.12:g.35657742G>A rs1033305693 0.00013
NR_003051.4(RMRP):n.112G>A rs1031995271 0.00012
NR_003051.4(RMRP):n.90G>A rs780957606 0.00012
NC_000009.12:g.35657746A>G rs749839597 0.00010
NR_003051.4(RMRP):n.67A>G rs530883024 0.00010
NC_000009.12:g.35657712G>A rs866678717 0.00009
NC_000009.12:g.35657904C>A rs747605028 0.00009
NC_000009.12:g.35658067G>A rs768701060 0.00009
NC_000009.12:g.35657869T>C rs756285919 0.00008
NC_000009.12:g.35658040A>G rs947939533 0.00008
NR_003051.4(RMRP):n.121C>T rs549849356 0.00008
NR_003051.4(RMRP):n.150C>T rs977992022 0.00008
NC_000009.12:g.35657747A>G rs775067778 0.00007
NC_000009.12:g.35657748A>G rs377349293 0.00007
NR_003051.4(RMRP):n.51C>T rs1030486815 0.00007
NC_000009.12:g.35657677G>A rs770577795 0.00006
NC_000009.12:g.35657704C>G rs569993924 0.00006
NR_003051.4(RMRP):n.116G>A rs747605028 0.00006
NR_003051.4(RMRP):n.194C>T rs1045976155 0.00006
NR_003051.4(RMRP):n.229C>T rs560328768 0.00006
NR_003051.4(RMRP):n.56C>T rs1032219537 0.00006
NC_000009.12:g.35657652G>T rs1289148391 0.00005
NR_003051.4(RMRP):n.137C>T rs940224067 0.00005
NR_003051.4(RMRP):n.139C>T rs928825069 0.00005
NR_003051.4(RMRP):n.36A>G rs572081363 0.00005
NC_000009.12:g.35657820G>A rs527471640 0.00004
NC_000009.12:g.35657830G>A rs933259658 0.00004
NC_000009.12:g.35657852C>T rs530627656 0.00004
NC_000009.12:g.35658010G>A rs893651141 0.00004
NR_003051.4(RMRP):n.172G>A rs995230090 0.00004
NR_003051.4(RMRP):n.174C>T rs565056797 0.00004
NR_003051.4(RMRP):n.81G>A rs756128568 0.00004
NC_000009.12:g.35657897A>G rs1262019879 0.00003
NC_000009.12:g.35657898_35657899insA rs1275182876 0.00003
NC_000009.12:g.35657917G>A rs954709065 0.00003
NC_000009.12:g.35657925C>T rs767355005 0.00003
NC_000009.12:g.35657937T>C rs745416646 0.00003
NC_000009.12:g.35658039T>G rs563106486 0.00003
NC_000009.12:g.35658044T>C rs1479868789 0.00003
NC_000009.12:g.35658095G>A rs553651882 0.00003
NR_003051.4(RMRP):n.140C>T rs746248517 0.00003
NR_003051.4(RMRP):n.146C>T rs759632477 0.00003
NR_003051.4(RMRP):n.187C>T rs1051076135 0.00003
NR_003051.4(RMRP):n.204C>T rs964504772 0.00003
NR_003051.4(RMRP):n.206C>T rs925085494 0.00003
NR_003051.4(RMRP):n.214G>A rs145720742 0.00003
NR_003051.4(RMRP):n.47dup rs1449922755 0.00003
NC_000009.12:g.35657718G>A rs1378566357 0.00002
NC_000009.12:g.35657731C>G rs773388104 0.00002
NC_000009.12:g.35657757G>A rs533294975 0.00002
NC_000009.12:g.35657902T>C rs763923256 0.00002
NC_000009.12:g.35657981C>T rs1396054526 0.00002
NR_003051.4(RMRP):n.120A>G rs571254176 0.00002
NR_003051.4(RMRP):n.122A>G rs557578605 0.00002
NR_003051.4(RMRP):n.163C>T rs370797103 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NR_003051.4(RMRP):n.18C>T rs769169620 0.00002
NR_003051.4(RMRP):n.203C>T rs183570217 0.00002
NR_003051.4(RMRP):n.215C>T rs772665785 0.00002
NR_003051.4(RMRP):n.233G>A rs774897161 0.00002
NR_003051.4(RMRP):n.265G>A rs578123788 0.00002
NR_003051.4(RMRP):n.52C>T rs1064793373 0.00002
NR_003051.4(RMRP):n.60T>C rs1040824418 0.00002
NC_000009.12:g.35657669A>G rs944727411 0.00001
NC_000009.12:g.35657674T>G rs1244474890 0.00001
NC_000009.12:g.35657759G>C rs1435244601 0.00001
NC_000009.12:g.35657775G>C rs1260135124 0.00001
NC_000009.12:g.35657781T>C rs2131807964 0.00001
NC_000009.12:g.35657782T>C rs771464779 0.00001
NC_000009.12:g.35657784G>A rs1002409010 0.00001
NC_000009.12:g.35657789C>T rs1263924354 0.00001
NC_000009.12:g.35657793C>G rs1472791197 0.00001
NC_000009.12:g.35657795C>T rs1823603024 0.00001
NC_000009.12:g.35657808T>C rs1243849504 0.00001
NC_000009.12:g.35657809A>T rs1324099168 0.00001
NC_000009.12:g.35657813A>G rs370303129 0.00001
NC_000009.12:g.35657824A>G rs1343590034 0.00001
NC_000009.12:g.35657828A>C rs1303560278 0.00001
NC_000009.12:g.35657831A>G rs1227147763 0.00001
NC_000009.12:g.35657832C>T rs1314916789 0.00001
NC_000009.12:g.35657849G>A rs1020582110 0.00001
NC_000009.12:g.35657866_35657867insA rs745372450 0.00001
NC_000009.12:g.35657867C>T rs1278840803 0.00001
NC_000009.12:g.35657884T>C rs765138079 0.00001
NC_000009.12:g.35657892G>A rs1049483652 0.00001
NC_000009.12:g.35657910T>C rs567665484 0.00001
NC_000009.12:g.35657935G>A rs1282617590 0.00001
NC_000009.12:g.35657936G>A rs1372572486 0.00001
NC_000009.12:g.35657941G>A rs1042583858 0.00001
NC_000009.12:g.35657942G>A rs889473053 0.00001
NC_000009.12:g.35657946_35657947insA rs1315683844 0.00001
NC_000009.12:g.35657947_35657948insA rs1563907365 0.00001
NC_000009.12:g.35657948_35657949del rs1491544612 0.00001
NC_000009.12:g.35657951C>T rs1245480029 0.00001
NC_000009.12:g.35657970A>C rs890235700 0.00001
NC_000009.12:g.35657972C>T rs553530605 0.00001
NC_000009.12:g.35657974_35657975insT rs1183709679 0.00001
NC_000009.12:g.35657976G>A rs981913573 0.00001
NC_000009.12:g.35657985G>A rs758862328 0.00001
NC_000009.12:g.35657986T>C rs780392182 0.00001
NC_000009.12:g.35657987G>A rs1284380114 0.00001
NC_000009.12:g.35657991C>T rs748623920 0.00001
NC_000009.12:g.35657995G>A rs1345823900 0.00001
NC_000009.12:g.35657996G>A rs184259540 0.00001
NC_000009.12:g.35658008C>T rs1466108662 0.00001
NC_000009.12:g.35658013C>T rs552002151 0.00001
NC_000009.12:g.35658013_35658020dup rs1169511671 0.00001
NC_000009.12:g.35658025del rs911564838 0.00001
NC_000009.12:g.35658034C>T rs780414839 0.00001
NC_000009.12:g.35658038_35658042dup rs727502779 0.00001
NC_000009.12:g.35658058A>G rs1030974270 0.00001
NC_000009.12:g.35658089G>A rs1823657206 0.00001
NC_000009.12:g.35658094T>C rs1368573414 0.00001
NC_000009.12:g.35658112A>G rs1484349571 0.00001
NC_000009.12:g.35658118T>C rs1234835649 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.4(RMRP):n.102A>G rs983337094 0.00001
NR_003051.4(RMRP):n.115_116insA rs769131655 0.00001
NR_003051.4(RMRP):n.122_124dup rs1240755048 0.00001
NR_003051.4(RMRP):n.127C>T rs1303461251 0.00001
NR_003051.4(RMRP):n.130C>T rs1335579840 0.00001
NR_003051.4(RMRP):n.134C>T rs1587918293 0.00001
NR_003051.4(RMRP):n.167T>G rs1160309777 0.00001
NR_003051.4(RMRP):n.202C>T rs1245933575 0.00001
NR_003051.4(RMRP):n.20G>C rs910861550 0.00001
NR_003051.4(RMRP):n.212dup rs1823604831 0.00001
NR_003051.4(RMRP):n.235A>G rs1371155716 0.00001
NR_003051.4(RMRP):n.247G>A rs1345047056 0.00001
NR_003051.4(RMRP):n.263C>G rs533294975 0.00001
NR_003051.4(RMRP):n.33dup rs1355041388 0.00001
NR_003051.4(RMRP):n.42_56dup rs1823624249 0.00001
NR_003051.4(RMRP):n.46C>T rs1394104178 0.00001
NR_003051.4(RMRP):n.86T>G rs991322091 0.00001
NR_003051.4(RMRP):n.86dup rs1290503500 0.00001
NR_003051.4(RMRP):n.94A>C rs928762713 0.00001
NR_003051.4(RMRP):n.96A>G rs1338745014 0.00001
NR_003051.4(RMRP):n.97G>A rs970510851 0.00001
NC_000009.11:g.(?_34370797)_(36276941_?)dup
NC_000009.11:g.(?_34645556)_(36277059_?)dup
NC_000009.12:g.35657657C>G rs1823589205
NC_000009.12:g.35657675T>C rs2490598778
NC_000009.12:g.35657678G>T rs1823592489
NC_000009.12:g.35657679_35657698del rs2131807553
NC_000009.12:g.35657680G>A rs1823592567
NC_000009.12:g.35657681C>T rs150183436
NC_000009.12:g.35657688T>C rs2131807579
NC_000009.12:g.35657696C>T
NC_000009.12:g.35657699G>C rs1823593319
NC_000009.12:g.35657706C>G rs2131807621
NC_000009.12:g.35657707G>A rs903310510
NC_000009.12:g.35657707G>C rs903310510
NC_000009.12:g.35657720C>T rs2490599035
NC_000009.12:g.35657725G>T rs1823594956
NC_000009.12:g.35657731C>T
NC_000009.12:g.35657736_35657742del
NC_000009.12:g.35657737C>T rs1166044496
NC_000009.12:g.35657739C>A rs1451219801
NC_000009.12:g.35657746A>T rs749839597
NC_000009.12:g.35657750A>C rs555390900
NC_000009.12:g.35657750A>G rs555390900
NC_000009.12:g.35657751A>T rs572399988
NC_000009.12:g.35657751_35657753del rs2490599405
NC_000009.12:g.35657751dup rs549047941
NC_000009.12:g.35657753A>C rs557906740
NC_000009.12:g.35657754G>C rs962412737
NC_000009.12:g.35657756C>T rs727502774
NC_000009.12:g.35657756_35657757delinsTT rs2490599561
NC_000009.12:g.35657760C>T rs2131807882
NC_000009.12:g.35657761T>C rs1177828515
NC_000009.12:g.35657765A>C rs2490599614
NC_000009.12:g.35657766A>G rs781079047
NC_000009.12:g.35657766_35657774del rs1401833682
NC_000009.12:g.35657768G>A rs769854200
NC_000009.12:g.35657777G>C rs912498335
NC_000009.12:g.35657778T>C rs1038523315
NC_000009.12:g.35657786G>A rs1193906088
NC_000009.12:g.35657792A>G rs2131808028
NC_000009.12:g.35657793C>A rs1472791197
NC_000009.12:g.35657793C>T rs1472791197
NC_000009.12:g.35657797C>T rs924622406
NC_000009.12:g.35657800T>G rs936059863
NC_000009.12:g.35657802_35657803insTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCA rs1823603652
NC_000009.12:g.35657804T>A rs886041234
NC_000009.12:g.35657806C>A rs145720742
NC_000009.12:g.35657807G>A rs192060920
NC_000009.12:g.35657808T>G rs1243849504
NC_000009.12:g.35657810A>G rs1219992892
NC_000009.12:g.35657816G>C rs964504772
NC_000009.12:g.35657821C>T rs1384419955
NC_000009.12:g.35657822T>A rs773432147
NC_000009.12:g.35657822T>C rs773432147
NC_000009.12:g.35657828A>G rs1303560278
NC_000009.12:g.35657838C>G rs1004469515
NC_000009.12:g.35657839G>A rs188907984
NC_000009.12:g.35657839G>C rs188907984
NC_000009.12:g.35657840C>G rs1287720442
NC_000009.12:g.35657841G>C rs7021642
NC_000009.12:g.35657842C>G rs750141239
NC_000009.12:g.35657847C>A rs1352003526
NC_000009.12:g.35657848C>G rs995230090
NC_000009.12:g.35657850C>T rs1823610073
NC_000009.12:g.35657854G>A rs1823610431
NC_000009.12:g.35657855C>G rs1405507797
NC_000009.12:g.35657858G>A rs751373603
NC_000009.12:g.35657858G>T rs751373603
NC_000009.12:g.35657859A>G rs754810221
NC_000009.12:g.35657863G>A rs149105942
NC_000009.12:g.35657867C>A rs1278840803
NC_000009.12:g.35657869T>A rs756285919
NC_000009.12:g.35657870G>T rs977992022
NC_000009.12:g.35657873G>A rs757576534
NC_000009.12:g.35657873G>C rs757576534
NC_000009.12:g.35657878T>A rs1303112183
NC_000009.12:g.35657880G>C rs746248517
NC_000009.12:g.35657884T>G rs765138079
NC_000009.12:g.35657894G>C rs938089991
NC_000009.12:g.35657894G>T rs938089991
NC_000009.12:g.35657898T>A rs557578605
NC_000009.12:g.35657899_35657900insA rs2131808600
NC_000009.12:g.35657903A>G rs1437035543
NC_000009.12:g.35657906T>C rs772825736
NC_000009.12:g.35657908_35657909insA rs1563907170
NC_000009.12:g.35657909G>C rs1198937575
NC_000009.12:g.35657912T>C rs1587918470
NC_000009.12:g.35657915_35657918del rs1823618701
NC_000009.12:g.35657918T>G rs983337094
NC_000009.12:g.35657923C>A rs970510851
NC_000009.12:g.35657925_35657926insA rs2490601720
NC_000009.12:g.35657926T>C rs928762713
NC_000009.12:g.35657927C>T rs940193083
NC_000009.12:g.35657928T>C rs752723025
NC_000009.12:g.35657929G>A rs1418128709
NC_000009.12:g.35657929G>T rs1418128709
NC_000009.12:g.35657930C>G rs780957606
NC_000009.12:g.35657931_35657932insT rs1489802482
NC_000009.12:g.35657939C>G rs756128568
NC_000009.12:g.35657942G>C rs889473053
NC_000009.12:g.35657946T>C rs1823621810
NC_000009.12:g.35657950C>T rs1823622604
NC_000009.12:g.35657952C>T rs1235939791
NC_000009.12:g.35657953T>G rs530883024
NC_000009.12:g.35657963G>A rs999349961
NC_000009.12:g.35657963G>T rs999349961
NC_000009.12:g.35657966G>T rs1229819090
NC_000009.12:g.35657968G>C rs1064793373
NC_000009.12:g.35657968G>T rs1064793373
NC_000009.12:g.35657970A>T rs890235700
NC_000009.12:g.35657971A>G rs1012176091
NC_000009.12:g.35657971A>T rs1012176091
NC_000009.12:g.35657976G>C rs981913573
NC_000009.12:g.35657977T>A rs928731584
NC_000009.12:g.35657977T>C rs928731584
NC_000009.12:g.35657980T>C rs1161741069
NC_000009.12:g.35657982A>C rs961529478
NC_000009.12:g.35657982A>G rs961529478
NC_000009.12:g.35657984T>G rs572081363
NC_000009.12:g.35657985G>C rs758862328
NC_000009.12:g.35657989A>T rs1823627300
NC_000009.12:g.35657995G>C rs1345823900
NC_000009.12:g.35658002G>C rs769169620
NC_000009.12:g.35658006T>C rs534146932
NC_000009.12:g.35658006T>G rs534146932
NC_000009.12:g.35658010G>C rs893651141
NC_000009.12:g.35658011C>G rs931636767
NC_000009.12:g.35658011C>T rs931636767
NC_000009.12:g.35658015A>C rs1023574374
NC_000009.12:g.35658017C>A rs905844277
NC_000009.12:g.35658017C>T rs905844277
NC_000009.12:g.35658019A>T rs188190570
NC_000009.12:g.35658020C>A rs958637129
NC_000009.12:g.35658020C>T rs958637129
NC_000009.12:g.35658022T>A rs555890962
NC_000009.12:g.35658022T>C rs555890962
NC_000009.12:g.35658022_35658023delinsCT
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGCCACGT rs1554651364
NC_000009.12:g.35658023C>A rs7024732
NC_000009.12:g.35658023C>G rs7024732
NC_000009.12:g.35658023_35658063dup rs1823636607
NC_000009.12:g.35658024C>A rs191438045
NC_000009.12:g.35658024C>G rs191438045
NC_000009.12:g.35658025T>A rs111909453
NC_000009.12:g.35658025T>G rs111909453
NC_000009.12:g.35658026C>G rs898955976
NC_000009.12:g.35658026C>T rs898955976
NC_000009.12:g.35658026_35658030dup rs1823638139
NC_000009.12:g.35658027A>G rs12552387
NC_000009.12:g.35658027_35658054dup rs1823641404
NC_000009.12:g.35658028G>C rs572830134
NC_000009.12:g.35658028G>T rs572830134
NC_000009.12:g.35658029C>G rs545020206
NC_000009.12:g.35658029C>T rs545020206
NC_000009.12:g.35658030T>C rs372044910
NC_000009.12:g.35658031T>A
NC_000009.12:g.35658032CA[3] rs1554651515
NC_000009.12:g.35658032_35658074dup rs1823645721
NC_000009.12:g.35658033A>C rs765292137
NC_000009.12:g.35658033A>G rs765292137
NC_000009.12:g.35658035A>G rs1266656422
NC_000009.12:g.35658036G>A rs775303012
NC_000009.12:g.35658036G>T rs775303012
NC_000009.12:g.35658037A>G rs1410018354
NC_000009.12:g.35658037_35658041dup rs1472119885
NC_000009.12:g.35658037dup rs1823648518
NC_000009.12:g.35658038G>A rs183974004
NC_000009.12:g.35658038_35658039delinsCG rs2490604466
NC_000009.12:g.35658039T>A rs563106486
NC_000009.12:g.35658039T>C rs563106486
NC_000009.12:g.35658039_35658059del rs2490604441
NC_000009.12:g.35658040_35658043del rs2490604527
NC_000009.12:g.35658041G>A rs188660894
NC_000009.12:g.35658041G>T rs188660894
NC_000009.12:g.35658042T>A rs529852688
NC_000009.12:g.35658042T>G rs529852688
NC_000009.12:g.35658042_35658051del rs1554651552
NC_000009.12:g.35658043A>G rs528920111
NC_000009.12:g.35658045T>C rs1823651542
NC_000009.12:g.35658046T>C rs2131810512
NC_000009.12:g.35658047dup
NC_000009.12:g.35658048del rs2490604659
NC_000009.12:g.35658049T>C rs145463993
NC_000009.12:g.35658049T>G rs145463993
NC_000009.12:g.35658052C>T rs775290179
NC_000009.12:g.35658055T>C rs2490604758
NC_000009.12:g.35658059G>A rs1171316483
NC_000009.12:g.35658059G>T rs1171316483
NC_000009.12:g.35658063T>C rs1309916780
NC_000009.12:g.35658065G>C rs3829076
NC_000009.12:g.35658065GT[1] rs1319883850
NC_000009.12:g.35658065_35658066delinsTC rs1823654028
NC_000009.12:g.35658071T>C rs551474332
NC_000009.12:g.35658071del rs1168028338
NC_000009.12:g.35658071dup rs1168028338
NC_000009.12:g.35658072A>C rs181777676
NC_000009.12:g.35658072A>G rs181777676
NC_000009.12:g.35658072A>T rs181777676
NC_000009.12:g.35658072_35658073delinsCC rs1823655299
NC_000009.12:g.35658073T>G rs12551232
NC_000009.12:g.35658073_35658074delinsCC rs2131810831
NC_000009.12:g.35658073del rs1554651600
NC_000009.12:g.35658074G>A rs531089786
NC_000009.12:g.35658074G>C rs531089786
NC_000009.12:g.35658074_35658075delinsAG rs2490605021
NC_000009.12:g.35658074_35658076del rs1823655436
NC_000009.12:g.35658075A>T rs3829077
NC_000009.12:g.35658075_35658076delinsGC rs1587919975
NC_000009.12:g.35658075_35658076delinsGG rs1587919975
NC_000009.12:g.35658076T>C rs545125827
NC_000009.12:g.35658076T>G rs545125827
NC_000009.12:g.35658076_35658084del rs2490605003
NC_000009.12:g.35658092G>A rs536842279
NC_000009.12:g.35658097C>A rs1421770576
NC_000009.12:g.35658102G>A rs1437731699
NC_000009.12:g.35658102G>C rs1437731699
NC_000009.12:g.35658105T>A rs2131811086
NC_000009.12:g.35658105del rs777581273
NC_000009.12:g.35658108A>G rs1206526864
NC_000009.12:g.35658112del rs1052348382
NR_003051.3(RMRP):n.-12dup rs1554651504
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-24_-1dup rs1823632816
NR_003051.3(RMRP):n.-25_-21dup rs1563908297
NR_003051.3(RMRP):n.-88dup rs1052348382
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.4(RMRP):n.101C>G rs536333075
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.107C>G rs542778133
NR_003051.4(RMRP):n.113C>T rs1479610947
NR_003051.4(RMRP):n.114_115insCC rs1823617443
NR_003051.4(RMRP):n.115C>G rs769331218
NR_003051.4(RMRP):n.115C>T rs769331218
NR_003051.4(RMRP):n.118_119delAG rs1380611840
NR_003051.4(RMRP):n.121_124delCATT rs1191061440
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.133C>A
NR_003051.4(RMRP):n.134_135insT rs1823614344
NR_003051.4(RMRP):n.139dup rs1823613724
NR_003051.4(RMRP):n.144G>A rs113967059
NR_003051.4(RMRP):n.144G>C rs113967059
NR_003051.4(RMRP):n.144G>T
NR_003051.4(RMRP):n.144_145insTCCGTCT rs2490601015
NR_003051.4(RMRP):n.147C>A rs757576534
NR_003051.4(RMRP):n.148G>C rs753874439
NR_003051.4(RMRP):n.148G>T rs753874439
NR_003051.4(RMRP):n.152A>G rs534955648
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.156_172dup rs1587918082
NR_003051.4(RMRP):n.158G>A rs7021463
NR_003051.4(RMRP):n.161dup
NR_003051.4(RMRP):n.162C>G rs751373603
NR_003051.4(RMRP):n.165G>A rs1405507797
NR_003051.4(RMRP):n.166C>G
NR_003051.4(RMRP):n.169A>C rs2490600572
NR_003051.4(RMRP):n.170_174dup rs2131808312
NR_003051.4(RMRP):n.172G>T
NR_003051.4(RMRP):n.175G>T rs1823609688
NR_003051.4(RMRP):n.178G>A rs750141239
NR_003051.4(RMRP):n.182delG rs1563906794
NR_003051.4(RMRP):n.186G>T rs908555769
NR_003051.4(RMRP):n.187C>A rs1051076135
NR_003051.4(RMRP):n.191A>G
NR_003051.4(RMRP):n.195G>C rs761398394
NR_003051.4(RMRP):n.198A>C
NR_003051.4(RMRP):n.199_203dup rs2490600190
NR_003051.4(RMRP):n.201T>C rs779796897
NR_003051.4(RMRP):n.204dup rs2490600109
NR_003051.4(RMRP):n.214_217GCAG[1] rs2490599945
NR_003051.4(RMRP):n.215C>A
NR_003051.4(RMRP):n.216A>G rs886041234
NR_003051.4(RMRP):n.217_218insGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTGCTTTTTGTTCCCGAGACCA rs2131807830
NR_003051.4(RMRP):n.222dup rs2131808061
NR_003051.4(RMRP):n.223G>C rs924622406
NR_003051.4(RMRP):n.223G>T rs924622406
NR_003051.4(RMRP):n.230C>A rs1169686514
NR_003051.4(RMRP):n.230_231CG[3] rs1192316579
NR_003051.4(RMRP):n.233G>T rs774897161
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.242dup rs2490599756
NR_003051.4(RMRP):n.243C>T rs912498335
NR_003051.4(RMRP):n.246G>C
NR_003051.4(RMRP):n.255_267del rs2490599484
NR_003051.4(RMRP):n.256C>T
NR_003051.4(RMRP):n.262G>A rs769080777
NR_003051.4(RMRP):n.266C>T rs962412737
NR_003051.4(RMRP):n.267T>C rs557906740
NR_003051.4(RMRP):n.27A>G rs1554651331
NR_003051.4(RMRP):n.2G>C rs773520232
NR_003051.4(RMRP):n.3G>C rs905844277
NR_003051.4(RMRP):n.45dup rs2131809106
NR_003051.4(RMRP):n.46C>G
NR_003051.4(RMRP):n.47T>C rs529328233
NR_003051.4(RMRP):n.49dup rs2131809055
NR_003051.4(RMRP):n.54delC rs151011853
NR_003051.4(RMRP):n.57C>G rs999349961
NR_003051.4(RMRP):n.63G>A rs544069410
NR_003051.4(RMRP):n.63G>C rs544069410
NR_003051.4(RMRP):n.66T>C rs1357036842
NR_003051.4(RMRP):n.6C>A rs772443941
NR_003051.4(RMRP):n.70_71insT rs1325325615
NR_003051.4(RMRP):n.71_72invGA
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.79_86delCCGGACCT rs2131808810
NR_003051.4(RMRP):n.7G>C rs552002151
NR_003051.4(RMRP):n.81G>T rs756128568
NR_003051.4(RMRP):n.84C>G rs1372572486
NR_003051.4(RMRP):n.84dup rs1222001621
NR_003051.4(RMRP):n.87C>G rs545284014
NR_003051.4(RMRP):n.87C>T rs545284014
NR_003051.4(RMRP):n.89G>A rs1264110860
NR_003051.4(RMRP):n.89_96dup rs1823619515
NR_003051.4(RMRP):n.8T>G rs587781140
NR_003051.4(RMRP):n.95dup rs2490601706
NR_003051.4(RMRP):n.99dup rs2490601644

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