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

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Total variants: 25

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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.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_003051.3(RMRP):n.64C>T	rs786204684	0.00004
NR_003051.4(RMRP):n.196dup	rs796065036	0.00004
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
NR_003051.3(RMRP):n.-13_1dup14	rs1554651373
NR_003051.3(RMRP):n.-14_3dup	rs878853178
NR_003051.3(RMRP):n.-19_-3dup	rs727502778
NR_003051.3(RMRP):n.-22_-3dup	rs1554651411
NR_003051.3(RMRP):n.-24_-10dup	rs727502776
NR_003051.3(RMRP):n.-24_-18dup	rs1554651543
NR_003051.3(RMRP):n.-24_-4dup	rs1563907883
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
NR_003051.3(RMRP):n.-6_-5insCCTGAG	rs1554651446
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.184G>A	rs1554651153
NR_003051.4(RMRP):n.197C>T	rs948931144
NR_003051.4(RMRP):n.220A>G	rs936059863
NR_003051.4(RMRP):n.94dup	rs2131808768
NR_003051.4(RMRP):n.97_98dup	rs1340624774

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