ClinVar Miner

List of variants in gene RMRP reported as pathogenic for anauxetic dysplasia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 182
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_003051.4(RMRP):n.244A>G rs551450545 0.00010
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NR_003051.3(RMRP):n.-19_-13dup rs1554651506 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.196dup rs796065036 0.00004
NR_003051.3(RMRP):n.-20_1dup rs1563907710 0.00003
NR_003051.3(RMRP):n.-24_-12dup rs781730798 0.00002
NR_003051.4(RMRP):n.16G>T rs902313238 0.00002
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
NR_003051.3(RMRP):n.-13_-7dup7 rs1554651462 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.-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_-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_003051.4(RMRP):n.232C>T rs762145032 0.00001
NR_003051.4(RMRP):n.256C>G rs1170858087 0.00001
NC_000009.12:g.(?_35657741)_(35658028_?)del
NC_000009.12:g.35658014_35658043dup
NC_000009.12:g.35658015_35658024dup
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_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.35658019_35658024dup
NC_000009.12:g.35658019_35658038dup rs2131809449
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_35658023insTCTCAGCTTCACAGAGCACGT
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTA
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAGCCACGT
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_35658024insTTCAGCTTCACAGACACGTC
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.35658024_35658035dup
NC_000009.12:g.35658025TCAGCTTC[3]
NC_000009.12:g.35658025_35658035dup
NC_000009.12:g.35658025_35658037dup rs1823639598
NC_000009.12:g.35658025_35658040dup rs2131809894
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.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.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.35658032_35658033insTCGTCCTCAGCTTC
NC_000009.12:g.35658032_35658038dup
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.35658035_35658040dup
NC_000009.12:g.35658035_35658041dup
NC_000009.12:g.35658036_35658044dup rs2131810342
NC_000009.12:g.35658037_35658038insCTAGTATTTTACAGA
NC_000009.12:g.35658038_35658039insCTCAGCTCAGCTTCACAGAG
NC_000009.12:g.35658038_35658039insGTCACAGAG
NC_000009.12:g.35658039_35658040insGGTCTCAGCTTCACAGAGT
NC_000009.12:g.35658039_35658040insGTGAGT
NC_000009.12:g.35658042_35658043insCACGTCTTCAGCTTCACAGAGTAGT rs920074067
NC_000009.12:g.35658042_35658043insCCCAGCTTCACAGAGTAGT
NC_000009.12:g.35658042_35658051dup
NC_000009.12:g.35658043_35658044insCCCAGCTTCACAGAGTAGTA
NC_000009.12:g.35658044_35658045insGAAGTAT
NC_000009.12:g.35658064_35658065insTTGTTTATAGCCCTAAAGAAATT
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
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.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-15_-8dup rs1230629953
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
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.-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_2dup rs1587919053
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_-3dup rs1554651411
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.-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_-6dup rs1554651445
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-30_-7dup rs1587919406
NR_003051.3(RMRP):n.-33_3dup rs1563907686
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-3_-2insACTACTCTGTGAAGCTGAGAAC rs1554651405
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.-8_-7ins20 rs1554651471
NR_003051.3(RMRP):n.-9_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.113_114insACGTAGACATTCCT rs1823615821
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.16G>A rs902313238
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.222T>C rs1013239356
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.92_93delAGinsGC rs387906533
NR_003051.4(RMRP):n.94dup rs2131808768
NR_003051.4(RMRP):n.97_98dup rs1340624774
NR_003051.4(RMRP):n.99G>A rs915919453

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