List of variants reported as pathogenic for Hartsfield-Bixler-Demyer syndrome by Muenke lab, National Institutes of Health

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.1460G>A (p.Gly487Asp)	rs515726224
NM_023110.3(FGFR1):c.1601TGA[1] (p.Met535del)	rs1554551657
NM_023110.3(FGFR1):c.1604T>A (p.Met535Lys)	rs1554551667
NM_023110.3(FGFR1):c.1869C>G (p.Asp623Glu)	rs780009859
NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr)	rs869025671
NM_023110.3(FGFR1):c.1921G>A (p.Asp641Asn)	rs1554548253

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