ClinVar Miner

List of variants in gene FGFR3 studied for connective tissue disorder

Included ClinVar conditions (370):
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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.417C>T (p.Asp139=) rs3135867 0.03551
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn) rs200495316 0.00008
NM_000142.5(FGFR3):c.1068G>A (p.Val356=) rs201947443 0.00007
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000142.5(FGFR3):c.2265G>A (p.Thr755=) rs755791719 0.00003
NM_000142.5(FGFR3):c.1645+8C>T rs372987620 0.00002
NM_000142.5(FGFR3):c.1075+8C>T rs779181976 0.00001
NM_000142.5(FGFR3):c.1290C>T (p.Ser430=) rs3135891 0.00001
NM_000142.5(FGFR3):c.1524G>A (p.Lys508=) rs756833829 0.00001
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1182G>T (p.Thr394=) rs771495510
NM_000142.5(FGFR3):c.1199G>T (p.Ser400Ile) rs2108797719
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1647G>T (p.Gly549=) rs3135897
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) rs397515514
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.811G>A (p.Val271Met) rs1445397378

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