ClinVar Miner

List of variants studied for Pfeiffer syndrome by Clinical Genomics Laboratory, Washington University in St. Louis

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met) rs1301127877 0.00003
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys) rs755002934 0.00001

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