ClinVar Miner

List of variants reported as pathogenic for Hypochondroplasia

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Total variants: 24
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HGVS dbSNP
NM_000142.4:c.783A>C rs0
NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) rs587778775
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1142T>A (p.Val381Glu) rs587778776
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.1949A>C (p.Lys650Thr) rs121913105
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.344A>T (p.Gln115Leu) rs587778769
NM_000142.5(FGFR3):c.597C>T (p.His199=) rs587778801
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.791C>T (p.Thr264Met) rs587778773
NM_000142.5(FGFR3):c.801G>T (p.Leu267=) rs587778811
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) rs121913114
NM_000142.5(FGFR3):c.970C>G (p.Leu324Val) rs587778816
NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile) rs587778817
NP_000133.1(FGFR3):p.Gly65Arg rs0

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