ClinVar Miner

List of variants in gene POR reported as likely pathogenic for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter) rs782336856 0.00003
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter) rs781946801 0.00002
NM_001395413.1(POR):c.1240-2A>G rs1352009961 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_001395413.1(POR):c.115del (p.Thr39fs) rs2535263403
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1347del (p.Arg450fs)
NM_001395413.1(POR):c.1361G>T (p.Arg454Leu) rs28931608
NM_001395413.1(POR):c.1497_1501delinsGCC (p.Ala500fs)
NM_001395413.1(POR):c.1523_1542del (p.Leu508fs)
NM_001395413.1(POR):c.1617del (p.Phe540fs)
NM_001395413.1(POR):c.1685T>C (p.Leu562Pro)
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg) rs786205876
NM_001395413.1(POR):c.191_192del (p.Val64fs)
NM_001395413.1(POR):c.40G>T (p.Glu14Ter) rs373053855
NM_001395413.1(POR):c.671G>A (p.Trp224Ter)
NM_001395413.1(POR):c.723-1G>T
NM_001395413.1(POR):c.768del (p.Lys257fs) rs1789094697
NM_001395413.1(POR):c.808dup (p.Glu270fs)

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