ClinVar Miner

List of variants reported for Metaphyseal chondrodysplasia, McKusick type by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
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.64C>T rs786204684 0.00004
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 0.00003
NR_003051.3(RMRP):n.-20_1dup rs1563907710 0.00003
NR_003051.3(RMRP):n.-24_-12dup rs781730798 0.00002
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 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.-3_1dupCGTG rs1554651381 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.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
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_-6dup rs1563907946
NR_003051.3(RMRP):n.-13_1dup14 rs1554651373
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_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC rs1823648167
NR_003051.3(RMRP):n.-19_-3dup rs727502778
NR_003051.3(RMRP):n.-19_-5dup rs1823637565
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
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.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA rs1823639598
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.220A>G rs936059863

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