List of variants reported as uncertain significance for Chondrodysplasia by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000557.5(GDF5):c.-30C>A	rs375024998	0.00016
NM_017813.5(BPNT2):c.*1220G>A	rs143679493	0.00013
NM_017813.5(BPNT2):c.*5142G>T	rs777098357	0.00012
NM_017813.5(BPNT2):c.*2417C>T	rs886063008	0.00005
NM_000316.3(PTH1R):c.1050-3dup	rs754628395
NM_017813.5(BPNT2):c.1127_1133del	rs886063014
NM_017813.5(BPNT2):c.*1313del	rs199907097
NM_017813.5(BPNT2):c.*2320ATA[1]	rs550189601
NM_017813.5(BPNT2):c.286_288delinsTATGAGTCACCATTGACTCATTGTTATGAGT	rs886063017
NM_017813.5(BPNT2):c.*3811GTCT[1]	rs751680074
NM_017813.5(BPNT2):c.*413TC[1]	rs886063016
NM_017813.5(BPNT2):c.-69CGG[7]	rs756084314

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