ClinVar Miner

List of variants studied for Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln) rs1589713974
NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly) rs1458081920
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610

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