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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
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.37C>T	rs549085067	0.00006
NR_003051.3(RMRP):n.64C>T	rs786204684	0.00004
NR_003051.4(RMRP):n.-21_-13dup	rs1563908167	0.00001
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA	rs1554651425
NR_003051.3(RMRP):n.-13_-2dup	rs1554651400
NR_003051.3(RMRP):n.-20_-10dup	rs1554651486
NR_003051.3(RMRP):n.-20_-7dup14	rs1823639713
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC	rs727502776
NR_003051.3(RMRP):n.-24_-4dup	rs1563907883
NR_003051.3(RMRP):n.-26_-10dup	rs1554651491
NR_003051.4(RMRP):n.129G>A	rs74810894
NR_003051.4(RMRP):n.220A>G	rs936059863
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG	rs1383432106

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