ClinVar Miner

List of variants reported as benign for Chondrodysplasia

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Total variants: 16
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HGVS dbSNP
NM_000316.3(PTH1R):c.*127dup rs142021243
NM_000316.3(PTH1R):c.1389T>C (p.Asn463=) rs1138518
NM_000557.5(GDF5):c.*193G>T rs114832948
NM_000557.5(GDF5):c.*335A>C rs73611720
NM_000557.5(GDF5):c.*425T>C rs56366915
NM_000557.5(GDF5):c.-275= rs143383
NM_000557.5(GDF5):c.-48= rs143384
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331
NM_017813.5(IMPAD1):c.*2288G>A rs1396115
NM_017813.5(IMPAD1):c.*2508T>A rs13275472
NM_017813.5(IMPAD1):c.*3673A>G rs16921462
NM_017813.5(IMPAD1):c.*4209G>A rs1396116
NM_017813.5(IMPAD1):c.*4430A>G rs1396117
NM_017813.5(IMPAD1):c.*5505A>G rs8718

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