ClinVar Miner

List of variants studied for Meier-Gorlin syndrome 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_004153.4(ORC1):c.2405A>G (p.His802Arg) rs587780411
NM_004153.4(ORC1):c.464T>C (p.Phe155Ser) rs2147941129

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