ClinVar Miner

List of variants in gene RMRP reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.240C>T rs749667892 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NC_000009.12:g.35658031_35658040dup rs1554651507 0.00007
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NC_000009.12:g.35658031_35658037dup rs1554651506 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.81G>A rs756128568 0.00004
NC_000009.12:g.35658020_35658032dup rs1554651400 0.00003
NC_000009.12:g.35658018_35658038dup rs1563907710 0.00002
NC_000009.12:g.35658023_35658037dup rs1823637565 0.00002
NC_000009.12:g.35658024_35658040dup rs727502777 0.00002
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA rs781730798 0.00002
NR_003051.4(RMRP):n.16G>T rs902313238 0.00002
NR_003051.4(RMRP):n.52C>T rs1064793373 0.00002
NC_000009.12:g.35658018_35658040dup rs1554651376 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.35658026_35658043dup rs1554651473 0.00001
NC_000009.12:g.35658028_35658041dup rs1554651489 0.00001
NC_000009.12:g.35658029_35658058dup rs1823643256 0.00001
NC_000009.12:g.35658030_35658037dup rs1554651505 0.00001
NC_000009.12:g.35658032_35658043dup rs1554651526 0.00001
NC_000009.12:g.35658033_35658040dup rs1563908212 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-20_-3dup rs1554651418 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.-25_-6dup rs1554651445 0.00001
NR_003051.3(RMRP):n.-26_-10dup rs1554651491 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.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NC_000009.12:g.35657756C>G rs727502774
NC_000009.12:g.35657796G>A rs1364719732
NC_000009.12:g.35657872C>T rs753874439
NC_000009.12:g.35657873G>A rs757576534
NC_000009.12:g.35658016_35658035dup rs1823629969
NC_000009.12:g.35658016_35658043dup
NC_000009.12:g.35658017_35658038dup rs1587919053
NC_000009.12:g.35658018_35658026dup rs1554651365
NC_000009.12:g.35658018_35658037dup rs1554651382
NC_000009.12:g.35658018_35658041dup rs2131809417
NC_000009.12:g.35658019_35658038dup rs2131809449
NC_000009.12:g.35658019_35658040dup rs1554651387
NC_000009.12:g.35658019_35658041dup rs2131809458
NC_000009.12:g.35658019_35658046dup rs2131809467
NC_000009.12:g.35658020_35658029dup rs1587919129
NC_000009.12:g.35658020_35658036dup rs1587919165
NC_000009.12:g.35658020_35658037dup rs1554651396
NC_000009.12:g.35658021_35658042dup rs1554651411
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTACACGT rs1554651368
NC_000009.12:g.35658022_35658023insTCTCAGCTTCACAGAGTAGTACGT rs1218494857
NC_000009.12:g.35658022_35658031dup rs1554651424
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658022_35658035dup rs1823636018
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658024insTCAGCTTCACAGACTAGTATACGTT rs1554651439
NC_000009.12:g.35658023_35658024insTCAGCTTCACAGAGTAGTT rs1554651439
NC_000009.12:g.35658023_35658032dup rs1823637418
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658023_35658040dup rs1823637755
NC_000009.12:g.35658023_35658048dup rs2131809742
NC_000009.12:g.35658024_35658038dup rs2490603549
NC_000009.12:g.35658024_35658039dup rs1554651451
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025_35658032dup rs1563907946
NC_000009.12:g.35658025_35658036dup rs1554651466
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658036dup rs1230629953
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658026_35658042dup rs920074067
NC_000009.12:g.35658027_35658040dup rs1823641711
NC_000009.12:g.35658029CTTCACAGAGTAG[3] rs751921616
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.35658030_35658039dup rs1554651503
NC_000009.12:g.35658031TCACAGAGTAGT[4] rs781730798
NC_000009.12:g.35658031TCACAGAGTA[3] rs1554651507
NC_000009.12:g.35658032CACAGAGTA[4] rs1563908167
NC_000009.12:g.35658032_35658038dup rs2490604150
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658032_35658044dup rs1554651508
NC_000009.12:g.35658032_35658045dup rs1554651499
NC_000009.12:g.35658032_35658047dup rs1823644118
NC_000009.12:g.35658036_35658037insGTCCCCAGCTTCACAGA rs1823648167
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT rs1554651451
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
NC_000009.12:g.35658043_35658044insGCTGAGTAGTA rs1554651544
NC_000009.12:g.35658064_35658065insTTGTTTTATGGTTAGGGTCCTCAGCTTCACAGAGTAGTATTTTATAGCCCTAAAGAAATT rs2131809584
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC rs1554651486
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
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_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
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_-1dup rs1823632816
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-5delins17
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
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.-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.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.-23_-14dup rs1554651532
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG rs1554651471
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.149C>T rs1085307765
NR_003051.4(RMRP):n.184G>T rs1554651153
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.37C>G rs549085067
NR_003051.4(RMRP):n.97_98dup rs1340624774

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