List of variants reported as pathogenic for Hypochondroplasia by OMIM

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Total variants: 12

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HGVS	dbSNP
NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys)	rs587778775
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val)	rs80053154
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr)	rs77722678
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser)	rs77722678
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
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)	rs28928868
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn)	rs28928868
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)	rs121913116
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys)	rs121913115
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys)	rs121913114

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