List of variants in gene POR reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.1361G>A (p.Arg454His)	rs28931608	0.00005
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	rs121912976	0.00002
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)	rs28931607	0.00002
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.1813G>T (p.Val605Phe)	rs72552772
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg)	rs786205876
NM_001395413.1(POR):c.532T>G (p.Tyr178Asp)	rs72552771
NM_001395413.1(POR):c.559_571dup (p.Arg191fs)	rs786205878
NM_001395413.1(POR):c.722+1G>A	rs786205099

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