ClinVar Miner

List of variants studied for Metaphyseal dysplasia without hypotrichosis

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NC_000009.12:g.35658021GTCCTCAGCTTC[3] rs1554651400
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC rs1554651469
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863
RMRP, 1-BP DEL/21-BP INS, PROMOTER

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