ClinVar Miner

List of variants reported as pathogenic for Antley-Bixler syndrome

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) rs121912976 0.00002
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.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter) rs373613946
NM_001395413.1(POR):c.1466T>A (p.Val489Glu) rs28931606
NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys) rs121912975
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg) rs786205876
NM_001395413.1(POR):c.559_571dup (p.Arg191fs) rs786205878
NM_001395413.1(POR):c.722+1G>A rs786205099

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