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

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)	rs148480919	0.00153
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)	rs150652786	0.00034
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)	rs374507681	0.00029
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)	rs376173540	0.00014
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)	rs763571736	0.00010
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)	rs377010221	0.00009
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)	rs746123129	0.00008
NM_023110.3(FGFR1):c.359-13C>G	rs376369060	0.00007
NM_023110.3(FGFR1):c.1285-15C>T	rs760069564	0.00006
NM_023110.3(FGFR1):c.2049-13C>T	rs756845879	0.00006
NM_023110.3(FGFR1):c.621+7G>T	rs377200873	0.00004
NM_023110.3(FGFR1):c.92-14C>T	rs547772178	0.00004
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)	rs777061347	0.00003
NM_023110.3(FGFR1):c.2186+19C>T	rs776791517	0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=)	rs369175953	0.00003
NM_023110.3(FGFR1):c.1663+10G>A	rs901498652	0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)	rs774683007	0.00002
NM_023110.3(FGFR1):c.621+19G>A	rs945311072	0.00002
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)	rs756104594	0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)	rs546318124	0.00001
NM_023110.3(FGFR1):c.1978-13G>A	rs761708658	0.00001
NM_023110.3(FGFR1):c.1978-16C>T	rs764971696	0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)	rs1193961883	0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)	rs369782405	0.00001
NM_023110.3(FGFR1):c.2187-19C>T	rs376583717
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)	rs138489552

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