List of variants in gene FGFR3 reported as likely benign for Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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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.1827C>G (p.Ala609=)	rs750472969	0.00005
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=)	rs104886006	0.00002

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