List of variants reported as likely pathogenic for Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	rs121909641
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)	rs1554570813
NM_023110.3(FGFR1):c.448+1G>A	rs376416531
NM_023110.3(FGFR1):c.448+1G>C	rs376416531
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp)	rs2150822504
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)	rs727505369

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