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_003051.4(RMRP):n.72A>G	rs199476103	0.00123
NR_003051.4(RMRP):n.240C>T	rs749667892	0.00016
NC_000009.12:g.35658021GTCCTCAGCTTC[3]	rs1554651400
NR_003051.3(RMRP):n.-8_-7ins17	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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