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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.1361G>A (p.Arg454His)	rs28931608	0.00004
NM_001395413.1(POR):c.1354del (p.Gln452fs)	rs781805159	0.00002
NM_001395413.1(POR):c.821+1G>A	rs74900634	0.00001
NM_001395413.1(POR):c.1718dup (p.Tyr573Ter)
NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)	rs201786397

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