ClinVar Miner

List of variants reported as likely pathogenic for Metaphyseal chondrodysplasia, McKusick type

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ClinVar version:
Total variants: 67
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HGVS dbSNP
NR_003051.3(RMRP):n.-11_-2dup10 rs1554651393
NR_003051.3(RMRP):n.-12_-4dup9 rs1554651425
NR_003051.3(RMRP):n.-13_-2dup12 rs1554651400
NR_003051.3(RMRP):n.-13_-4dup10 rs1554651424
NR_003051.3(RMRP):n.-13_-6dup rs1563907946
NR_003051.3(RMRP):n.-13_-7dup7 rs1554651462
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400
NR_003051.3(RMRP):n.-16_-4dup13 rs1554651422
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
NR_003051.3(RMRP):n.-18_-1dup18 rs1554651396
NR_003051.3(RMRP):n.-18_-2dup17 rs727502778
NR_003051.3(RMRP):n.-18_-7dup12 rs1554651466
NR_003051.3(RMRP):n.-18_-8dup11 rs1554651464
NR_003051.3(RMRP):n.-18_-9dup10 rs1554651481
NR_003051.3(RMRP):n.-19_-12dup8 rs1554651505
NR_003051.3(RMRP):n.-19_-13dupTCTGTGA rs1554651506
NR_003051.3(RMRP):n.-19_1dup20 rs1554651382
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_-10dup11 rs1554651486
NR_003051.3(RMRP):n.-20_-13dup8 rs1554651512
NR_003051.3(RMRP):n.-20_-2dup rs1554651404
NR_003051.3(RMRP):n.-20_-3dup18 rs1554651418
NR_003051.3(RMRP):n.-21_-12dup10 rs1554651503
NR_003051.3(RMRP):n.-21_-2dup20 rs1554651403
NR_003051.3(RMRP):n.-21_-4dup18 rs1563907881
NR_003051.3(RMRP):n.-21_-6dup16 rs1554651451
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-13dup rs1554651507
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT rs1563908212
NR_003051.3(RMRP):n.-22_-3dup20 rs1554651411
NR_003051.3(RMRP):n.-22_-4dup19 rs1554651427
NR_003051.3(RMRP):n.-22_-6dup17 rs727502777
NR_003051.3(RMRP):n.-23_-10dup rs1554651489
NR_003051.3(RMRP):n.-23_-13dup11 rs1554651513
NR_003051.3(RMRP):n.-23_-14dup10 rs1554651524
NR_003051.3(RMRP):n.-23_-5dup19 rs1554651428
NR_003051.3(RMRP):n.-23_-6dup18 rs1554651453
NR_003051.3(RMRP):n.-23_-7dup17 rs920074067
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-12dup rs781730798
NR_003051.3(RMRP):n.-24_-15dup10 rs1554651532
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-24_-3dup22 rs1554651411
NR_003051.3(RMRP):n.-24_-4dup21 rs1563907883
NR_003051.3(RMRP):n.-25_-12dup14 rs1554651499
NR_003051.3(RMRP):n.-25_-14dup12 rs1554651526
NR_003051.3(RMRP):n.-25_-3dup rs1554651413
NR_003051.3(RMRP):n.-25_-8dup18 rs1554651473
NR_003051.3(RMRP):n.-26_-10dup17 rs1554651491
NR_003051.3(RMRP):n.-3_-2ins20 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_-7ins15 rs1230629953
NR_003051.3(RMRP):n.-8_-7ins17 rs1554651469
NR_003051.3(RMRP):n.-8_-7ins20 rs1554651471
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.183G>T rs1554651153
NR_003051.3(RMRP):n.1_2ins13 rs1554651368
NR_003051.3(RMRP):n.212C>G rs192060920
NR_003051.3(RMRP):n.243A>G rs551450545
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.3_4ins10 rs759665242
NR_003051.3(RMRP):n.41G>A rs1156413585
NR_003051.3(RMRP):n.64C>T rs786204684

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