ClinVar Miner

List of variants studied for Antley-Bixler syndrome by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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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.1361G>A (p.Arg454His) rs28931608 0.00005
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.1052C>G (p.Ser351Cys) rs121918502
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
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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