ClinVar Miner

List of variants reported as pathogenic for Antley-Bixler syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000141.4(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.4(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.4(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.4(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.4(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.4(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000941.3(POR):c.1329dup (p.Ile444fs) rs786205875
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.1475T>A (p.Val492Glu) rs28931606
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.3(POR):c.1615G>A (p.Gly539Arg) rs121912976
NM_000941.3(POR):c.1733A>G (p.Tyr578Cys) rs121912975
NM_000941.3(POR):c.1835_1858del (p.Leu612_Trp620delinsArg) rs786205876
NM_000941.3(POR):c.568_580dup (p.Arg194fs) rs786205878
NM_000941.3(POR):c.731+1G>A rs786205099
NM_000941.3(POR):c.859G>C (p.Ala287Pro) rs121912974

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