List of variants in gene POR studied for Congenital adrenal hyperplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	rs121912976	0.00002
NM_001395413.1(POR):c.1676_1679dup (p.Leu561fs)	rs781914230	0.00002
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)	rs28931607	0.00002
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter)	rs781946801	0.00002
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)	rs72557954	0.00001
NM_001395413.1(POR):c.821+1G>A	rs74900634	0.00001
NM_001395413.1(POR):c.1112T>A (p.Leu371His)
NM_001395413.1(POR):c.1685T>C (p.Leu562Pro)
NM_001395413.1(POR):c.335del (p.Ala112fs)	rs2545335404
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)	rs782534601

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