List of variants reported as likely pathogenic for Pfeiffer syndrome

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Total variants: 8

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HGVS	dbSNP
NM_022970.3(FGFR2):c.1087+1292G>A	rs1057519044
NM_022970.3(FGFR2):c.1697A>C (p.Glu566Ala)	rs121918506
NM_022970.3(FGFR2):c.1697A>G (p.Glu566Gly)	rs121918506
NM_022970.3(FGFR2):c.1925A>G (p.Lys642Arg)	rs1057519047
NM_022970.3(FGFR2):c.833_834delinsTA (p.Cys278Leu)	rs1057519037
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu)	rs121909641
NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys)	rs1554570706
NM_023110.2(FGFR1):c.448+1G>A

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