ClinVar Miner

List of variants studied for Metaphyseal chondrodysplasia, McKusick type by OMIM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
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.-14_3dup rs878853178
NR_003051.3(RMRP):n.-19_-3dup rs727502778
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-6_-5insCCTGAG rs1554651446
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.97_98dup rs1340624774

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