ClinVar Miner

List of variants in gene RMRP studied for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 332
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NC_000009.12:g.35658021G>A rs138660393 0.00185
NC_000009.12:g.35658030T>G rs372044910 0.00058
NC_000009.12:g.35658025T>C rs111909453 0.00057
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
NR_003051.4(RMRP):n.164C>T rs550203343 0.00022
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
NR_003051.4(RMRP):n.92A>C rs752723025 0.00017
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
NC_000009.12:g.35658036G>C 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.244A>G rs551450545 0.00010
NR_003051.4(RMRP):n.67A>G rs530883024 0.00010
NR_003051.4(RMRP):n.121C>T rs549849356 0.00009
NC_000009.12:g.35658040A>G rs947939533 0.00008
NR_003051.4(RMRP):n.150C>T rs977992022 0.00008
NC_000009.12:g.35657748A>G rs377349293 0.00007
NC_000009.12:g.35658031_35658040dup rs1554651507 0.00007
NR_003051.4(RMRP):n.51C>T rs1030486815 0.00007
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
NC_000009.12:g.35658031_35658037dup 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.172G>A rs995230090 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NC_000009.12:g.35658018_35658038dup rs1563907710 0.00003
NC_000009.12:g.35658039T>G rs563106486 0.00003
NC_000009.12:g.35658044T>C rs1479868789 0.00003
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 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
NC_000009.12:g.35658024_35658040dup rs727502777 0.00002
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA rs781730798 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.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.233G>A rs774897161 0.00002
NR_003051.4(RMRP):n.265G>A rs578123788 0.00002
NR_003051.4(RMRP):n.60T>C rs1040824418 0.00002
NC_000009.12:g.35657948_35657949del rs1491544612 0.00001
NC_000009.12:g.35658013_35658020dup rs1169511671 0.00001
NC_000009.12:g.35658020_35658038dup rs1554651404 0.00001
NC_000009.12:g.35658023_35658041dup rs1554651428 0.00001
NC_000009.12:g.35658024_35658041dup rs1554651453 0.00001
NC_000009.12:g.35658025_35658031dup rs1554651462 0.00001
NC_000009.12:g.35658025del rs911564838 0.00001
NC_000009.12:g.35658026_35658043dup rs1554651473 0.00001
NC_000009.12:g.35658028_35658041dup rs1554651489 0.00001
NC_000009.12:g.35658033_35658040dup rs1563908212 0.00001
NC_000009.12:g.35658034C>T rs780414839 0.00001
NR_003051.3(RMRP):n.-15delT rs1554651530 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-19_-12dup8 rs1554651505 0.00001
NR_003051.3(RMRP):n.-20_-18delCTC rs1210447003 0.00001
NR_003051.3(RMRP):n.-20_-18dupCTC rs1554651542 0.00001
NR_003051.3(RMRP):n.-20_-8dup rs1823640657 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.4(RMRP):n.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 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.167T>G rs1160309777 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 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.232C>T rs762145032 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.256C>G rs1170858087 0.00001
NR_003051.4(RMRP):n.263C>G rs533294975 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NR_003051.4(RMRP):n.46C>T rs1394104178 0.00001
NR_003051.4(RMRP):n.67delA rs1317019943 0.00001
NR_003051.4(RMRP):n.77C>T rs902757638 0.00001
NR_003051.4(RMRP):n.94A>C rs928762713 0.00001
NR_003051.4(RMRP):n.97G>A rs970510851 0.00001
NC_000009.12:g.35657872C>T rs753874439
NC_000009.12:g.35657873G>A rs757576534
NC_000009.12:g.35657928T>C rs752723025
NC_000009.12:g.35658016_35658043dup
NC_000009.12:g.35658018_35658026dup rs1554651365
NC_000009.12:g.35658018_35658034dup rs878853178
NC_000009.12:g.35658018_35658037dup rs1554651382
NC_000009.12:g.35658018_35658040dup rs1554651376
NC_000009.12:g.35658018_35658041dup rs2131809417
NC_000009.12:g.35658019_35658038dup rs2131809449
NC_000009.12:g.35658020C>A rs958637129
NC_000009.12:g.35658020C>T rs958637129
NC_000009.12:g.35658020_35658037dup rs1554651396
NC_000009.12:g.35658020_35658043dup rs1823632816
NC_000009.12:g.35658021GTCCTCAGCTTC[3] rs1554651400
NC_000009.12:g.35658021_35658034dup rs1554651373
NC_000009.12:g.35658022T>A rs555890962
NC_000009.12:g.35658022T>C rs555890962
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658031dup rs1554651424
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658023C>A rs7024732
NC_000009.12:g.35658023C>T rs7024732
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658037dup rs1823637565
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658024C>A rs191438045
NC_000009.12:g.35658024C>G rs191438045
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025T>A rs111909453
NC_000009.12:g.35658025_35658032dup rs1563907946
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026C>T rs898955976
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658026_35658042dup rs920074067
NC_000009.12:g.35658027A>C rs12552387
NC_000009.12:g.35658027A>G rs12552387
NC_000009.12:g.35658028G>C rs572830134
NC_000009.12:g.35658028G>T rs572830134
NC_000009.12:g.35658029C>T rs545020206
NC_000009.12:g.35658029_35658036dup rs1230629953
NC_000009.12:g.35658029_35658038dup rs1554651481
NC_000009.12:g.35658029_35658041dup rs751921616
NC_000009.12:g.35658030T>C rs372044910
NC_000009.12:g.35658032_35658038dup
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658032_35658043dup rs1554651526
NC_000009.12:g.35658032_35658044dup rs1554651508
NC_000009.12:g.35658032_35658045dup rs1554651499
NC_000009.12:g.35658033A>G rs765292137
NC_000009.12:g.35658036G>A rs775303012
NC_000009.12:g.35658036_35658037insGTCCCCAGCTTCACAGA rs1823648167
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000009.12:g.35658038G>A rs183974004
NC_000009.12:g.35658038G>C rs183974004
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NC_000009.12:g.35658041G>T rs188660894
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
NC_000009.12:g.35658042T>A rs529852688
NC_000009.12:g.35658042T>C rs529852688
NC_000009.12:g.35658042T>G rs529852688
NC_000009.12:g.35658049T>C rs145463993
NC_000009.12:g.35658072A>T rs181777676
NC_000009.12:g.35658073T>C rs12551232
NC_000009.12:g.35658073del rs1554651600
NR_003051.3(RMRP):n.-10_-5dup6 rs1554651437
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC rs1554651486
NR_003051.3(RMRP):n.-11_-2dup10 rs1587919129
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.-14_-13dupGA rs1554651511
NR_003051.3(RMRP):n.-15_-14delTG rs1554651515
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-17_-15dupTGT rs1554651531
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
NR_003051.3(RMRP):n.-18_-2dup17 rs1587919165
NR_003051.3(RMRP):n.-18_-7dup12 rs1554651466
NR_003051.3(RMRP):n.-18_-8dup11 rs1230629953
NR_003051.3(RMRP):n.-1_1ins16 rs1554651395
NR_003051.3(RMRP):n.-1_1ins21 rs1218494857
NR_003051.3(RMRP):n.-1_1ins22 rs1554651397
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_-3dup rs1554651418
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-12dup10 rs1554651503
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_-6dup16 rs1554651451
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-24_-3dup22 rs1554651411
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-25_-21dup rs1563908297
NR_003051.3(RMRP):n.-25_-24delTA rs1160072325
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-29_-23del7 rs1554651555
NR_003051.3(RMRP):n.-30_-21del10 rs1554651552
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-50delA rs1168028338
NR_003051.3(RMRP):n.-50dupA rs1168028338
NR_003051.3(RMRP):n.-57_-54delTCATinsCCA rs1554651593
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
NR_003051.3(RMRP):n.-5_6dup11 rs1554651348
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
NR_003051.3(RMRP):n.-6_-5insCCTGAG rs1554651446
NR_003051.3(RMRP):n.-73_-71delCCA rs1587920033
NR_003051.3(RMRP):n.-7_-6ins16 rs1554651461
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA rs1823639598
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):n.-88dup rs1052348382
NR_003051.3(RMRP):n.-8_-7ins15 rs1230629953
NR_003051.3(RMRP):n.-8_-7ins17 rs1554651469
NR_003051.3(RMRP):n.-9_1dup rs752934195
NR_003051.3(RMRP):n.1_2ins13 rs1554651368
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.3_4ins10 rs759665242
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC rs1554651349
NR_003051.3(RMRP):r.-25_-7dupTACTACTCTGTGAAGCTGA rs1554651455
NR_003051.4(RMRP):n.-18_-17insTCTGTGAAGCTGAGGAC
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.-23_-14dup rs1554651532
NR_003051.4(RMRP):n.-24_-3dup rs1554651423
NR_003051.4(RMRP):n.-5_+5dup
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG rs1554651471
NR_003051.4(RMRP):n.101C>G rs536333075
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.113C>T rs1479610947
NR_003051.4(RMRP):n.115C>G rs769331218
NR_003051.4(RMRP):n.115C>T rs769331218
NR_003051.4(RMRP):n.116_117insCC rs1554651212
NR_003051.4(RMRP):n.117T>G rs1437035543
NR_003051.4(RMRP):n.118_119delAG rs1380611840
NR_003051.4(RMRP):n.120A>G
NR_003051.4(RMRP):n.121_124delCATT rs1191061440
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.134C>T rs1587918293
NR_003051.4(RMRP):n.13_14insT rs1554651339
NR_003051.4(RMRP):n.141dup rs1554651181
NR_003051.4(RMRP):n.144G>C rs113967059
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.149C>T rs1085307765
NR_003051.4(RMRP):n.152A>G rs534955648
NR_003051.4(RMRP):n.154A>C rs1428585182
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.156_172dup rs1587918082
NR_003051.4(RMRP):n.158G>A rs7021463
NR_003051.4(RMRP):n.162C>G rs751373603
NR_003051.4(RMRP):n.165G>A rs1405507797
NR_003051.4(RMRP):n.175G>T rs1823609688
NR_003051.4(RMRP):n.178_179GC[3] rs1554651154
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.182delG rs1563906794
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.184G>T rs1554651153
NR_003051.4(RMRP):n.186G>T rs908555769
NR_003051.4(RMRP):n.187C>A rs1051076135
NR_003051.4(RMRP):n.196_204delTCAGCTCCC rs1554651129
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.1T>C rs188190570
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.216A>G rs886041234
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.223G>C rs924622406
NR_003051.4(RMRP):n.223G>T
NR_003051.4(RMRP):n.230C>A rs1169686514
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.237_242delCAACCA rs1554651106
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.243C>T rs912498335
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.245C>T rs1260135124
NR_003051.4(RMRP):n.246G>C
NR_003051.4(RMRP):n.250C>T rs1554651104
NR_003051.4(RMRP):n.256C>A rs1170858087
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.25_43del19 rs1554651292
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.268G>C rs535022008
NR_003051.4(RMRP):n.27A>G rs1554651331
NR_003051.4(RMRP):n.2G>C rs773520232
NR_003051.4(RMRP):n.2_6dup rs1554651347
NR_003051.4(RMRP):n.37C>G rs549085067
NR_003051.4(RMRP):n.37_38delCT rs1554651307
NR_003051.4(RMRP):n.3G>C rs905844277
NR_003051.4(RMRP):n.45delT rs1554651291
NR_003051.4(RMRP):n.47T>C rs529328233
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.54dup rs151011853
NR_003051.4(RMRP):n.57C>G rs999349961
NR_003051.4(RMRP):n.63G>A rs544069410
NR_003051.4(RMRP):n.66T>A rs1357036842
NR_003051.4(RMRP):n.71_72dup rs1554651256
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.7G>C rs552002151
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.8T>G rs587781140
NR_003051.4(RMRP):n.94dup rs2131808768
NR_003051.4(RMRP):n.97_98dup rs1340624774
NR_003051.4(RMRP):n.99_101delGCC rs1554651230
RMRP, 1-BP DEL/21-BP INS, PROMOTER

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