ClinVar Miner

List of variants studied for Anauxetic dysplasia by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 694
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.-47C>A rs3829076 0.46029
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NC_000009.12:g.35657744A>G rs71521283 0.17718
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NC_000009.12:g.35657733_35657802dup rs1563906333 0.00418
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NR_003051.4(RMRP):n.55C>T rs193117694 0.00303
NR_003051.3(RMRP):n.-3C>T rs138660393 0.00185
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NR_003051.3(RMRP):n.-6G>A rs191438045 0.00112
NR_003051.3(RMRP):n.-62C>A rs367843919 0.00089
NR_003051.3(RMRP):n.-12A>C rs372044910 0.00058
NR_003051.3(RMRP):n.-7A>G rs111909453 0.00057
NR_003051.4(RMRP):n.141A>G rs578091934 0.00042
NR_003051.4(RMRP):n.177G>A rs377566038 0.00039
NR_003051.3(RMRP):n.-34G>C rs775290179 0.00026
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
NR_003051.4(RMRP):n.164C>T rs550203343 0.00022
NR_003051.3(RMRP):n.270T>C rs551655682 0.00021
NR_003051.4(RMRP):n.59_60insA rs1053360711 0.00021
NR_003051.4(RMRP):n.2G>A rs773520232 0.00019
NR_003051.4(RMRP):n.92A>C rs752723025 0.00017
NR_003051.4(RMRP):n.150C>T rs977992022 0.00016
NR_003051.4(RMRP):n.160A>G rs535595484 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NR_003051.4(RMRP):n.181dup rs940080676 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NR_003051.3(RMRP):n.-18C>G rs775303012 0.00014
NR_003051.4(RMRP):n.112G>A rs1031995271 0.00012
NR_003051.4(RMRP):n.90G>A rs780957606 0.00012
NR_003051.4(RMRP):n.121C>T rs549849356 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NR_003051.4(RMRP):n.67A>G rs530883024 0.00010
NC_000009.12:g.35657746A>G rs749839597 0.00009
NR_003051.4(RMRP):n.116G>T rs747605028 0.00009
NR_003051.3(RMRP):n.-22T>C rs947939533 0.00008
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NR_003051.3(RMRP):n.271T>C 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.107_108insT rs775287390 0.00006
NR_003051.4(RMRP):n.116G>A rs747605028 0.00006
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NR_003051.4(RMRP):n.56C>T rs1032219537 0.00006
NR_003051.3(RMRP):n.-19_-13dup rs1554651506 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.229C>T rs560328768 0.00005
NR_003051.4(RMRP):n.36A>G rs572081363 0.00005
NR_003051.4(RMRP):n.37C>A rs549085067 0.00005
NR_003051.3(RMRP):n.-25_-3dup rs1554651413 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_003051.4(RMRP):n.10C>T rs893651141 0.00004
NR_003051.4(RMRP):n.172G>A rs995230090 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NR_003051.4(RMRP):n.47dup rs1449922755 0.00004
NR_003051.4(RMRP):n.81G>A rs756128568 0.00004
NR_003051.3(RMRP):n.-20_1dup rs1563907710 0.00003
NR_003051.3(RMRP):n.-21A>C rs563106486 0.00003
NR_003051.3(RMRP):n.-26A>G rs1479868789 0.00003
NR_003051.4(RMRP):n.103C>T rs954709065 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.194C>T rs1045976155 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.233G>A rs774897161 0.00003
NR_003051.4(RMRP):n.263C>G rs533294975 0.00003
NR_003051.4(RMRP):n.95G>A rs767355005 0.00003
NR_003051.3(RMRP):n.-22_-6dup rs727502777 0.00002
NR_003051.3(RMRP):n.-24_-12dup rs781730798 0.00002
NR_003051.4(RMRP):n.110A>G rs567665484 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.16G>T rs902313238 0.00002
NR_003051.4(RMRP):n.174C>T rs565056797 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.263C>T rs533294975 0.00002
NR_003051.4(RMRP):n.265G>A rs578123788 0.00002
NR_003051.4(RMRP):n.39G>A rs1396054526 0.00002
NR_003051.4(RMRP):n.60T>C rs1040824418 0.00002
NC_000009.12:g.35657674T>G rs1244474890 0.00001
NC_000009.12:g.35658014_35658041dup rs1554651349 0.00001
NC_000009.12:g.35658020_35658034dup rs937585109 0.00001
NC_000009.12:g.35658022_35658037dup rs1563907859 0.00001
NC_000009.12:g.35658025_35658042dup rs920074067 0.00001
NC_000009.12:g.35658029_35658058dup rs1823643256 0.00001
NC_000009.12:g.35658118T>C rs1234835649 0.00001
NR_003051.3(RMRP):n.-13_-7dup7 rs1554651462 0.00001
NR_003051.3(RMRP):n.-16G>A rs780414839 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-20_-2dup rs1554651404 0.00001
NR_003051.3(RMRP):n.-20_-8dup rs1823640657 0.00001
NR_003051.3(RMRP):n.-21_-2dup rs1554651403 0.00001
NR_003051.3(RMRP):n.-22_-14dup rs1563908167 0.00001
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT rs1563908212 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-23_-10dup rs1554651489 0.00001
NR_003051.3(RMRP):n.-23_-5dup19 rs1554651428 0.00001
NR_003051.3(RMRP):n.-23_-6dup rs1554651453 0.00001
NR_003051.3(RMRP):n.-25_-8dup18 rs1554651473 0.00001
NR_003051.3(RMRP):n.-26_1dup rs1554651385 0.00001
NR_003051.3(RMRP):n.-2_6dup8 rs1169511671 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.3(RMRP):n.-71C>T rs1823657206 0.00001
NR_003051.3(RMRP):n.-7delA rs911564838 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.136A>G rs765138079 0.00001
NR_003051.4(RMRP):n.167T>G rs1160309777 0.00001
NR_003051.4(RMRP):n.171C>T rs1020582110 0.00001
NR_003051.4(RMRP):n.189T>C rs1227147763 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.196T>C rs1343590034 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.212A>G rs1243849504 0.00001
NR_003051.4(RMRP):n.227G>C rs1472791197 0.00001
NR_003051.4(RMRP):n.232C>T rs762145032 0.00001
NR_003051.4(RMRP):n.234C>T rs1193906088 0.00001
NR_003051.4(RMRP):n.235A>G rs1371155716 0.00001
NR_003051.4(RMRP):n.236C>T rs1002409010 0.00001
NR_003051.4(RMRP):n.245C>G rs1260135124 0.00001
NR_003051.4(RMRP):n.247G>A rs1345047056 0.00001
NR_003051.4(RMRP):n.25C>T rs1345823900 0.00001
NR_003051.4(RMRP):n.29G>A rs748623920 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NR_003051.4(RMRP):n.44C>T rs981913573 0.00001
NR_003051.4(RMRP):n.46C>T rs1394104178 0.00001
NR_003051.4(RMRP):n.48G>A rs553530605 0.00001
NR_003051.4(RMRP):n.69G>A rs1245480029 0.00001
NR_003051.4(RMRP):n.71_72delGA rs1491544612 0.00001
NR_003051.4(RMRP):n.7G>A rs552002151 0.00001
NR_003051.4(RMRP):n.84C>T rs1372572486 0.00001
NR_003051.4(RMRP):n.85C>T rs1282617590 0.00001
NR_003051.4(RMRP):n.86T>G rs991322091 0.00001
NR_003051.4(RMRP):n.94A>C rs928762713 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.(?_35657741)_(35658028_?)del
NC_000009.12:g.35657652G>T
NC_000009.12:g.35657657C>G
NC_000009.12:g.35657669A>G
NC_000009.12:g.35657675T>C
NC_000009.12:g.35657678G>T
NC_000009.12:g.35657679_35657698del rs2131807553
NC_000009.12:g.35657680G>A
NC_000009.12:g.35657681C>T
NC_000009.12:g.35657688T>C rs2131807579
NC_000009.12:g.35657699G>C
NC_000009.12:g.35657706C>G rs2131807621
NC_000009.12:g.35657707G>A
NC_000009.12:g.35657707G>C
NC_000009.12:g.35657712G>A
NC_000009.12:g.35657718G>A
NC_000009.12:g.35657720C>T
NC_000009.12:g.35657725G>T
NC_000009.12:g.35657731C>G
NC_000009.12:g.35657737C>T rs1166044496
NC_000009.12:g.35657739C>A
NC_000009.12:g.35657742G>A
NC_000009.12:g.35657746A>T rs749839597
NC_000009.12:g.35657747A>G
NC_000009.12:g.35657748_35657749insG
NC_000009.12:g.35657750A>C rs555390900
NC_000009.12:g.35657750A>G
NC_000009.12:g.35657751_35657753del
NC_000009.12:g.35657751dup
NC_000009.12:g.35658014_35658043dup
NC_000009.12:g.35658015_35658024dup
NC_000009.12:g.35658016_35658035dup rs1823629969
NC_000009.12:g.35658016_35658037dup rs772962847
NC_000009.12:g.35658017_35658034dup
NC_000009.12:g.35658017_35658039dup
NC_000009.12:g.35658017_35658040dup rs1563907676
NC_000009.12:g.35658018_35658024dup rs1554651360
NC_000009.12:g.35658018_35658029dup
NC_000009.12:g.35658018_35658030dup
NC_000009.12:g.35658018_35658032dup rs1823630945
NC_000009.12:g.35658018_35658040dup rs1554651376
NC_000009.12:g.35658018_35658041dup rs2131809417
NC_000009.12:g.35658018_35658043dup
NC_000009.12:g.35658018_35658045dup
NC_000009.12:g.35658019A>T
NC_000009.12:g.35658019_35658024dup
NC_000009.12:g.35658019_35658038dup rs2131809449
NC_000009.12:g.35658019_35658041dup rs2131809458
NC_000009.12:g.35658019_35658046dup rs2131809467
NC_000009.12:g.35658020_35658035dup rs1554651375
NC_000009.12:g.35658020_35658040dup rs1554651387
NC_000009.12:g.35658020_35658041dup rs2131809514
NC_000009.12:g.35658020_35658043dup rs1823632816
NC_000009.12:g.35658021_35658044dup
NC_000009.12:g.35658022_35658023insTCTCAGCT
NC_000009.12:g.35658022_35658023insTCTCAGCTTCAC rs1554651430
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGACACGT rs1554651368
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGACCACGT rs1823630124
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGACGT rs1218494857
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGCACGT
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGCCACGT rs1554651364
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTA
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTACACGT rs1554651368
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAGCCACGT
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAGTACGT rs1218494857
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAGTAT rs1408633343
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAGTATTTACGT
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAGTGGT rs1554651405
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAT rs1408633343
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGCGT
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGT
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACGT
NC_000009.12:g.35658022_35658023insTCTCAGCTTTACGT rs1218494857
NC_000009.12:g.35658022_35658023insTTTCAGCTTCACAGAGTAG
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658022_35658033dup
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658024delinsTT rs2131809702
NC_000009.12:g.35658023_35658024insTCAGCTTCACAGACTAGTATACGTT rs1554651439
NC_000009.12:g.35658023_35658024insTCAGCTTCACAGAGTAGTT rs1554651439
NC_000009.12:g.35658023_35658024insTTCAGCTTCACAGACACGTC
NC_000009.12:g.35658023_35658032dup rs1823637418
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658023_35658043dup rs2131809737
NC_000009.12:g.35658023_35658044dup rs1554651423
NC_000009.12:g.35658023_35658046dup
NC_000009.12:g.35658023_35658048dup rs2131809742
NC_000009.12:g.35658024_35658035dup
NC_000009.12:g.35658025T>G
NC_000009.12:g.35658025TCAGCTTC[3]
NC_000009.12:g.35658025_35658035dup
NC_000009.12:g.35658025_35658037dup rs1823639598
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658025_35658040dup rs2131809894
NC_000009.12:g.35658026C>G
NC_000009.12:g.35658026_35658030dup rs1823638139
NC_000009.12:g.35658026_35658045dup rs2131809930
NC_000009.12:g.35658026_35658047dup rs1823640030
NC_000009.12:g.35658027_35658043dup
NC_000009.12:g.35658028GCTTCACAGAGTAGTA[3]
NC_000009.12:g.35658028GCTTCACAGAGTAGTA[4]
NC_000009.12:g.35658028GCTTCACAGAGTAGTA[5] rs1554651479
NC_000009.12:g.35658028GCTTCACAGAG[4] rs1554651486
NC_000009.12:g.35658029C>G
NC_000009.12:g.35658029CTTCACAGAGTAG[3] rs751921616
NC_000009.12:g.35658029CTTCACAGAGTAG[4] rs751921616
NC_000009.12:g.35658029CTTCACAGAGTAG[5] rs751921616
NC_000009.12:g.35658029CTTCACAG[3]
NC_000009.12:g.35658029_35658030insGTCACAGAGCACGTCCTCAGC
NC_000009.12:g.35658029_35658042dup rs2131810104
NC_000009.12:g.35658031TCACAGAGTAGT[4] rs781730798
NC_000009.12:g.35658031TCACAGAGTA[3] rs1554651507
NC_000009.12:g.35658031_35658032insTCTCAGCTT
NC_000009.12:g.35658031_35658036dup rs2131810166
NC_000009.12:g.35658031_35658042dup rs781730798
NC_000009.12:g.35658032CACAGAGTAGTATT[3]
NC_000009.12:g.35658032CACAGAGTAGTAT[3] rs1554651508
NC_000009.12:g.35658032CACAGAGTA[3]
NC_000009.12:g.35658032CACAGAGTA[4] rs1563908167
NC_000009.12:g.35658032CA[3]
NC_000009.12:g.35658032_35658033insTCGTCCTCAGCTTC
NC_000009.12:g.35658032_35658038dup
NC_000009.12:g.35658032_35658047dup rs1823644118
NC_000009.12:g.35658033A>C
NC_000009.12:g.35658034_35658035insTCGTCCTCAGCTTCAC
NC_000009.12:g.35658034_35658040dup rs1563908212
NC_000009.12:g.35658034_35658041dup rs2131810278
NC_000009.12:g.35658034_35658048dup rs2131810269
NC_000009.12:g.35658035A>G rs1266656422
NC_000009.12:g.35658035_35658040dup
NC_000009.12:g.35658035_35658041dup
NC_000009.12:g.35658036G>T
NC_000009.12:g.35658036_35658044dup rs2131810342
NC_000009.12:g.35658037A>G rs1410018354
NC_000009.12:g.35658037_35658038insCTAGTATTTTACAGA
NC_000009.12:g.35658037dup rs1823648518
NC_000009.12:g.35658038_35658039delinsCG
NC_000009.12:g.35658038_35658039insCTCAGCTCAGCTTCACAGAG
NC_000009.12:g.35658038_35658039insGTCACAGAG
NC_000009.12:g.35658038_35658042dup
NC_000009.12:g.35658039T>A rs563106486
NC_000009.12:g.35658039T>C rs563106486
NC_000009.12:g.35658039_35658040insGGTCTCAGCTTCACAGAGT
NC_000009.12:g.35658039_35658040insGTGAGT
NC_000009.12:g.35658039_35658059del
NC_000009.12:g.35658040_35658043del
NC_000009.12:g.35658041G>A
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
NC_000009.12:g.35658042_35658043insCACGTCTTCAGCTTCACAGAGTAGT rs920074067
NC_000009.12:g.35658042_35658043insCCCAGCTTCACAGAGTAGT
NC_000009.12:g.35658042_35658051dup
NC_000009.12:g.35658043A>G
NC_000009.12:g.35658043_35658044insCCCAGCTTCACAGAGTAGTA
NC_000009.12:g.35658043_35658044insGCTGAGTAGTA rs1554651544
NC_000009.12:g.35658044_35658045insGAAGTAT
NC_000009.12:g.35658045T>C
NC_000009.12:g.35658046T>C rs2131810512
NC_000009.12:g.35658048del
NC_000009.12:g.35658049T>G
NC_000009.12:g.35658052C>T
NC_000009.12:g.35658055T>C
NC_000009.12:g.35658058A>G
NC_000009.12:g.35658059G>A
NC_000009.12:g.35658059G>T
NC_000009.12:g.35658063T>C
NC_000009.12:g.35658064_35658065insTTGTTTATAGCCCTAAAGAAATT
NC_000009.12:g.35658064_35658065insTTGTTTTATGGTTAGGGTCCTCAGCTTCACAGAGTAGTATTTTATAGCCCTAAAGAAATT rs2131809584
NC_000009.12:g.35658065G>C
NC_000009.12:g.35658065GT[1]
NC_000009.12:g.35658065_35658066delinsTC rs1823654028
NC_000009.12:g.35658067G>A
NC_000009.12:g.35658072A>C
NC_000009.12:g.35658072A>G rs181777676
NC_000009.12:g.35658072_35658073delinsCC rs1823655299
NC_000009.12:g.35658073T>G
NC_000009.12:g.35658073_35658074delinsCC rs2131810831
NC_000009.12:g.35658074G>A
NC_000009.12:g.35658074_35658075delinsAG
NC_000009.12:g.35658074_35658076del rs1823655436
NC_000009.12:g.35658076T>C
NC_000009.12:g.35658076T>G rs545125827
NC_000009.12:g.35658076_35658084del
NC_000009.12:g.35658092G>A rs536842279
NC_000009.12:g.35658094T>C
NC_000009.12:g.35658097C>A rs1421770576
NC_000009.12:g.35658102G>A rs1437731699
NC_000009.12:g.35658102G>C
NC_000009.12:g.35658105T>A rs2131811086
NC_000009.12:g.35658105del rs777581273
NC_000009.12:g.35658108A>G rs1206526864
NC_000009.12:g.35658112A>G
NC_000009.12:g.35658112del
NC_000009.12:g.35658116T>C
NR_003051.3(RMRP):n.-10C>A rs572830134
NR_003051.3(RMRP):n.-10C>G rs572830134
NR_003051.3(RMRP):n.-10C>T rs572830134
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-11G>A rs545020206
NR_003051.3(RMRP):n.-12A>G rs372044910
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-12dup rs1554651504
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-13_-4dup10 rs1554651424
NR_003051.3(RMRP):n.-13_-6dup rs1563907946
NR_003051.3(RMRP):n.-13_1dup14 rs1554651373
NR_003051.3(RMRP):n.-14_3dup rs878853178
NR_003051.3(RMRP):n.-15T>C rs765292137
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-15_-8dup rs1230629953
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-4dup rs1823636018
NR_003051.3(RMRP):n.-18C>T rs775303012
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
NR_003051.3(RMRP):n.-18_-1dup rs1554651396
NR_003051.3(RMRP):n.-18_-9dup10 rs1554651481
NR_003051.3(RMRP):n.-19_-3dup rs727502778
NR_003051.3(RMRP):n.-19_-5dup rs1823637565
NR_003051.3(RMRP):n.-19_1dup20 rs1554651382
NR_003051.3(RMRP):n.-1_1ins22 rs1554651397
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.3(RMRP):n.-20C>T rs183974004
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-12dup rs1554651503
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC rs1554651469
NR_003051.3(RMRP):n.-20_-3dup rs1554651418
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-20_2dup rs1587919053
NR_003051.3(RMRP):n.-21_-17dup5 rs1472119885
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-22_-1dup rs1554651387
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-22_-5dup rs1823637755
NR_003051.3(RMRP):n.-22_-9dup rs1823641711
NR_003051.3(RMRP):n.-23C>A rs188660894
NR_003051.3(RMRP):n.-23C>G rs188660894
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-23_-14dup10 rs1554651524
NR_003051.3(RMRP):n.-23_-7dup17 rs920074067
NR_003051.3(RMRP):n.-24A>C rs529852688
NR_003051.3(RMRP):n.-24A>G rs529852688
NR_003051.3(RMRP):n.-24A>T rs529852688
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-15dup10 rs1554651532
NR_003051.3(RMRP):n.-24_-17dup rs1554651537
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-24_-9dup rs1554651479
NR_003051.3(RMRP):n.-25_-12dup rs1554651499
NR_003051.3(RMRP):n.-25_-13dup rs1554651508
NR_003051.3(RMRP):n.-25_-21dup rs1563908297
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-2G>A rs958637129
NR_003051.3(RMRP):n.-2G>T rs958637129
NR_003051.3(RMRP):n.-30_-21del10 rs1554651552
NR_003051.3(RMRP):n.-30_-7dup rs1587919406
NR_003051.3(RMRP):n.-31A>G rs145463993
NR_003051.3(RMRP):n.-33_3dup rs1563907686
NR_003051.3(RMRP):n.-35_-8dup rs1823641404
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-3_-2insACTACTCTGTGAAGCTGAGAAC rs1554651405
NR_003051.3(RMRP):n.-44_-4dup rs1823636607
NR_003051.3(RMRP):n.-4A>G rs555890962
NR_003051.3(RMRP):n.-4A>T rs555890962
NR_003051.3(RMRP):n.-50delA rs1168028338
NR_003051.3(RMRP):n.-50dupA rs1168028338
NR_003051.3(RMRP):n.-53A>G rs551474332
NR_003051.3(RMRP):n.-54T>A rs181777676
NR_003051.3(RMRP):n.-55A>G rs12551232
NR_003051.3(RMRP):n.-55delA rs1554651600
NR_003051.3(RMRP):n.-56C>G rs531089786
NR_003051.3(RMRP):n.-56_-14dup rs1823645721
NR_003051.3(RMRP):n.-57T>A rs3829077
NR_003051.3(RMRP):n.-57T>C rs3829077
NR_003051.3(RMRP):n.-58_-57delinsCC rs1587919975
NR_003051.3(RMRP):n.-58_-57delinsGC rs1587919975
NR_003051.3(RMRP):n.-5G>A rs7024732
NR_003051.3(RMRP):n.-5G>C rs7024732
NR_003051.3(RMRP):n.-5G>T rs7024732
NR_003051.3(RMRP):n.-5delins17
NR_003051.3(RMRP):n.-6G>C rs191438045
NR_003051.3(RMRP):n.-6G>T rs191438045
NR_003051.3(RMRP):n.-77C>T rs553651882
NR_003051.3(RMRP):n.-7A>T rs111909453
NR_003051.3(RMRP):n.-7_-6ins16 rs1554651461
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.-7_2dup9 rs1554651365
NR_003051.3(RMRP):n.-88dup rs1052348382
NR_003051.3(RMRP):n.-8G>A rs898955976
NR_003051.3(RMRP):n.-8_-7ins20 rs1554651471
NR_003051.3(RMRP):n.-96G>A rs915031372
NR_003051.3(RMRP):n.-9T>C rs12552387
NR_003051.3(RMRP):n.-9T>G rs12552387
NR_003051.3(RMRP):n.-9_1dup rs752934195
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.168A>C
NR_003051.3(RMRP):n.177G>A
NR_003051.3(RMRP):n.198_202dup
NR_003051.3(RMRP):n.200T>C
NR_003051.3(RMRP):n.201dup
NR_003051.3(RMRP):n.211dup
NR_003051.3(RMRP):n.232G>T
NR_003051.3(RMRP):n.253_265delTTCTCAGCGCGGC
NR_003051.3(RMRP):n.268del rs549047941
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.32dup
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC rs1554651349
NR_003051.3(RMRP):n.98dup
NR_003051.4(RMRP):n.101C>G rs536333075
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.102A>C
NR_003051.4(RMRP):n.102_105delACGT rs1823618701
NR_003051.4(RMRP):n.107C>G
NR_003051.4(RMRP):n.108A>G
NR_003051.4(RMRP):n.10C>G rs893651141
NR_003051.4(RMRP):n.111C>G
NR_003051.4(RMRP):n.111_112insT
NR_003051.4(RMRP):n.113C>T rs1479610947
NR_003051.4(RMRP):n.114A>G
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.117T>C
NR_003051.4(RMRP):n.118A>G
NR_003051.4(RMRP):n.118_119delAG rs1380611840
NR_003051.4(RMRP):n.120A>G
NR_003051.4(RMRP):n.120_121insT rs2131808600
NR_003051.4(RMRP):n.121_122insT
NR_003051.4(RMRP):n.121_124delCATT rs1191061440
NR_003051.4(RMRP):n.122A>T
NR_003051.4(RMRP):n.123T>C
NR_003051.4(RMRP):n.126C>A
NR_003051.4(RMRP):n.126C>G rs938089991
NR_003051.4(RMRP):n.128C>T
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.12G>A
NR_003051.4(RMRP):n.134C>T rs1587918293
NR_003051.4(RMRP):n.134_135insT rs1823614344
NR_003051.4(RMRP):n.136A>C rs765138079
NR_003051.4(RMRP):n.139dup rs1823613724
NR_003051.4(RMRP):n.140C>G
NR_003051.4(RMRP):n.142A>T
NR_003051.4(RMRP):n.144G>A rs113967059
NR_003051.4(RMRP):n.144G>C rs113967059
NR_003051.4(RMRP):n.144_145insTCCGTCT
NR_003051.4(RMRP):n.147C>A rs757576534
NR_003051.4(RMRP):n.147C>G rs757576534
NR_003051.4(RMRP):n.148G>C rs753874439
NR_003051.4(RMRP):n.148G>T rs753874439
NR_003051.4(RMRP):n.14A>C rs534146932
NR_003051.4(RMRP):n.14A>G
NR_003051.4(RMRP):n.150C>A
NR_003051.4(RMRP):n.151A>G
NR_003051.4(RMRP):n.151A>T
NR_003051.4(RMRP):n.152A>G rs534955648
NR_003051.4(RMRP):n.153G>A
NR_003051.4(RMRP):n.153G>T
NR_003051.4(RMRP):n.153_154insT
NR_003051.4(RMRP):n.156_172dup rs1587918082
NR_003051.4(RMRP):n.157C>T
NR_003051.4(RMRP):n.158G>A rs7021463
NR_003051.4(RMRP):n.161T>C
NR_003051.4(RMRP):n.162C>A
NR_003051.4(RMRP):n.162C>G rs751373603
NR_003051.4(RMRP):n.162C>T rs751373603
NR_003051.4(RMRP):n.165G>A rs1405507797
NR_003051.4(RMRP):n.165G>C
NR_003051.4(RMRP):n.166C>T
NR_003051.4(RMRP):n.168G>A
NR_003051.4(RMRP):n.16G>A rs902313238
NR_003051.4(RMRP):n.170G>A
NR_003051.4(RMRP):n.170_174dup rs2131808312
NR_003051.4(RMRP):n.172G>C
NR_003051.4(RMRP):n.173G>T
NR_003051.4(RMRP):n.175G>T rs1823609688
NR_003051.4(RMRP):n.178G>C
NR_003051.4(RMRP):n.179C>G
NR_003051.4(RMRP):n.180G>C rs1287720442
NR_003051.4(RMRP):n.181C>G
NR_003051.4(RMRP):n.181C>T rs188907984
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.182G>C rs1004469515
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.188G>A
NR_003051.4(RMRP):n.18C>G rs769169620
NR_003051.4(RMRP):n.190C>T
NR_003051.4(RMRP):n.192T>C rs1303560278
NR_003051.4(RMRP):n.195G>C rs761398394
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.198A>G rs773432147
NR_003051.4(RMRP):n.198A>T rs773432147
NR_003051.4(RMRP):n.199G>A rs1384419955
NR_003051.4(RMRP):n.1T>C rs188190570
NR_003051.4(RMRP):n.200C>T
NR_003051.4(RMRP):n.204C>G rs964504772
NR_003051.4(RMRP):n.207T>C
NR_003051.4(RMRP):n.210T>C rs1219992892
NR_003051.4(RMRP):n.211T>A
NR_003051.4(RMRP):n.212A>C rs1243849504
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.213C>T
NR_003051.4(RMRP):n.214G>T
NR_003051.4(RMRP):n.214_217GCAG[1]
NR_003051.4(RMRP):n.216A>G rs886041234
NR_003051.4(RMRP):n.216A>T
NR_003051.4(RMRP):n.217_218insGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTGCTTTTTGTTCCCGAGACCA rs2131807830
NR_003051.4(RMRP):n.217_218insTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTGTTTTTTGTTCCCGAGACCA
NR_003051.4(RMRP):n.220A>C rs936059863
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.222T>C rs1013239356
NR_003051.4(RMRP):n.222dup rs2131808061
NR_003051.4(RMRP):n.223G>A
NR_003051.4(RMRP):n.223G>C rs924622406
NR_003051.4(RMRP):n.223G>T
NR_003051.4(RMRP):n.224C>T rs1364719732
NR_003051.4(RMRP):n.225G>A rs1823603024
NR_003051.4(RMRP):n.227G>A rs1472791197
NR_003051.4(RMRP):n.227G>T
NR_003051.4(RMRP):n.228T>C rs2131808028
NR_003051.4(RMRP):n.230C>A rs1169686514
NR_003051.4(RMRP):n.230_231CG[3]
NR_003051.4(RMRP):n.231G>A
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.238A>G
NR_003051.4(RMRP):n.239A>G rs2131807964
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.242A>G
NR_003051.4(RMRP):n.242dup
NR_003051.4(RMRP):n.243C>G
NR_003051.4(RMRP):n.243C>T rs912498335
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.246_254delGGGGCTCAT
NR_003051.4(RMRP):n.24C>T
NR_003051.4(RMRP):n.252C>T
NR_003051.4(RMRP):n.254T>C
NR_003051.4(RMRP):n.255T>G
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.259A>G
NR_003051.4(RMRP):n.25C>G rs1345823900
NR_003051.4(RMRP):n.260G>A rs2131807882
NR_003051.4(RMRP):n.261C>G
NR_003051.4(RMRP):n.262G>A rs769080777
NR_003051.4(RMRP):n.263_264delCGinsAA
NR_003051.4(RMRP):n.264G>A
NR_003051.4(RMRP):n.264G>C rs727502774
NR_003051.4(RMRP):n.266C>G
NR_003051.4(RMRP):n.266C>T rs962412737
NR_003051.4(RMRP):n.267T>C rs557906740
NR_003051.4(RMRP):n.267T>G
NR_003051.4(RMRP):n.268G>C rs535022008
NR_003051.4(RMRP):n.269T>A rs572399988
NR_003051.4(RMRP):n.269T>C rs572399988
NR_003051.4(RMRP):n.27A>G rs1554651331
NR_003051.4(RMRP):n.2G>C rs773520232
NR_003051.4(RMRP):n.31T>A rs1823627300
NR_003051.4(RMRP):n.33C>T
NR_003051.4(RMRP):n.34A>G
NR_003051.4(RMRP):n.35C>G rs758862328
NR_003051.4(RMRP):n.35C>T
NR_003051.4(RMRP):n.36A>C
NR_003051.4(RMRP):n.37C>G rs549085067
NR_003051.4(RMRP):n.38T>C
NR_003051.4(RMRP):n.38T>G
NR_003051.4(RMRP):n.3G>A
NR_003051.4(RMRP):n.3G>C rs905844277
NR_003051.4(RMRP):n.3G>T
NR_003051.4(RMRP):n.40A>G
NR_003051.4(RMRP):n.42_56dup rs1823624249
NR_003051.4(RMRP):n.43A>G
NR_003051.4(RMRP):n.43A>T
NR_003051.4(RMRP):n.44C>G
NR_003051.4(RMRP):n.45_46insA
NR_003051.4(RMRP):n.45dup rs2131809106
NR_003051.4(RMRP):n.47T>A rs529328233
NR_003051.4(RMRP):n.47T>C rs529328233
NR_003051.4(RMRP):n.49T>A
NR_003051.4(RMRP):n.49T>C rs1012176091
NR_003051.4(RMRP):n.49dup rs2131809055
NR_003051.4(RMRP):n.50T>A rs890235700
NR_003051.4(RMRP):n.50T>G
NR_003051.4(RMRP):n.52C>A rs1064793373
NR_003051.4(RMRP):n.52C>G rs1064793373
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.54C>A rs1229819090
NR_003051.4(RMRP):n.54delC
NR_003051.4(RMRP):n.54dup rs151011853
NR_003051.4(RMRP):n.57C>A rs999349961
NR_003051.4(RMRP):n.57C>G rs999349961
NR_003051.4(RMRP):n.57C>T rs999349961
NR_003051.4(RMRP):n.5T>G rs1023574374
NR_003051.4(RMRP):n.63G>A rs544069410
NR_003051.4(RMRP):n.63G>C rs544069410
NR_003051.4(RMRP):n.66T>C
NR_003051.4(RMRP):n.67A>C
NR_003051.4(RMRP):n.68G>A rs1235939791
NR_003051.4(RMRP):n.6C>A rs772443941
NR_003051.4(RMRP):n.70G>A rs1823622604
NR_003051.4(RMRP):n.71_72invGA
NR_003051.4(RMRP):n.72_73insT
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.73_74insT
NR_003051.4(RMRP):n.74A>G
NR_003051.4(RMRP):n.78C>G
NR_003051.4(RMRP):n.78C>T
NR_003051.4(RMRP):n.79C>T
NR_003051.4(RMRP):n.79_86delCCGGACCT rs2131808810
NR_003051.4(RMRP):n.7G>C rs552002151
NR_003051.4(RMRP):n.81G>C rs756128568
NR_003051.4(RMRP):n.81G>T
NR_003051.4(RMRP):n.83A>G
NR_003051.4(RMRP):n.84C>G rs1372572486
NR_003051.4(RMRP):n.84dup rs1222001621
NR_003051.4(RMRP):n.86dup
NR_003051.4(RMRP):n.87C>G rs545284014
NR_003051.4(RMRP):n.87C>T rs545284014
NR_003051.4(RMRP):n.88_89insA
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.90G>C rs780957606
NR_003051.4(RMRP):n.91C>A rs1418128709
NR_003051.4(RMRP):n.91C>T
NR_003051.4(RMRP):n.92A>G rs752723025
NR_003051.4(RMRP):n.92_93delAGinsGC rs387906533
NR_003051.4(RMRP):n.93G>A
NR_003051.4(RMRP):n.94A>G rs928762713
NR_003051.4(RMRP):n.94_95insT
NR_003051.4(RMRP):n.94dup rs2131808768
NR_003051.4(RMRP):n.95dup
NR_003051.4(RMRP):n.96A>G
NR_003051.4(RMRP):n.97G>T rs970510851
NR_003051.4(RMRP):n.97_98dup rs1340624774
NR_003051.4(RMRP):n.99G>A rs915919453
NR_003051.4(RMRP):n.9G>A
NR_003051.4(RMRP):n.9G>C

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.