ClinVar Miner

List of variants reported as pathogenic for Hypochondrogenesis by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser)	rs121912867
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu)	rs121912868
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)	rs121912864

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