List of variants studied for Crouzon syndrome by OMIM

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		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly)	rs121918492	0.00001
NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro)	rs387906676
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His)	rs121918489
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)	rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)	rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	rs121918487
NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp)	rs121918496
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	rs121918491
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	rs121918494
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)	rs121918490
NM_000141.5(FGFR2):c.1084+3A>G	rs879253721
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)	rs121918507
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)	rs121918497
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)	rs121918501
NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly)	rs121918501
NM_000141.5(FGFR2):c.874A>G (p.Lys292Glu)	rs121918500
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys)	rs121918493

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