ClinVar Miner

List of variants studied for Achondroplasia

Included ClinVar conditions (7):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000142.5(FGFR3):c.1959+15G>C rs17886888 0.00158
NM_000142.5(FGFR3):c.616-6G>A rs17883400 0.00014
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000142.5(FGFR3):c.1960-7C>T rs779177992 0.00004
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) rs745848425 0.00003
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) rs1256546303 0.00002
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 0.00002
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941 0.00001
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5:c.(?_1317)_(1837+1_1838-1)del
NM_000142.4(FGFR3):c.[1130T>G;1138G>A]
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys)
NM_000142.5(FGFR3):c.1075+95C>G
NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys) rs75790268
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1144G>A (p.Gly382Ser) rs1360936268
NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) rs2108797528
NM_000142.5(FGFR3):c.1606A>G (p.Lys536Glu) rs1721801068
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.1946A>G (p.Lys649Arg) rs1448029825
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) rs121913114
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile) rs1721503041

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