List of variants reported as pathogenic for cartilage-hair hypoplasia by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00156
NR_003051.4(RMRP):n.264G>T	rs727502774	0.00006
NR_003051.3(RMRP):n.-7_1dup8	rs752934195
NR_003051.3(RMRP):n.147G>A	rs753874439
NR_003051.4(RMRP):n.-18_-2dup	rs727502778
NR_003051.4(RMRP):n.-21_-2dup	rs1554651411

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