ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00016
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
NM_023110.3(FGFR1):c.454G>A (p.Ala152Thr) rs1033377277

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