ClinVar Miner

List of variants reported as pathogenic for Hypochondroplasia by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 3

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HGVS	dbSNP
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)	rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	rs28933068
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)	rs78311289

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