List of variants in gene combination LOC126860075, POR reported as uncertain significance for primary adrenal insufficiency

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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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.975C>T (p.Ala325=)	rs72557941	0.00136
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)	rs11540674	0.00044
NM_001395413.1(POR):c.898C>T (p.Leu300Phe)	rs201649877	0.00042
NM_001395413.1(POR):c.841C>A (p.Pro281Thr)	rs72557937	0.00016
NM_001395413.1(POR):c.991G>A (p.Val331Ile)	rs562241770	0.00006
NM_001395413.1(POR):c.888C>T (p.Thr296=)	rs180683888	0.00005
NM_001395413.1(POR):c.990C>T (p.Leu330=)	rs376830846	0.00005
NM_001395413.1(POR):c.938+10G>A	rs781980999	0.00004
NM_001395413.1(POR):c.892C>T (p.Arg298Cys)	rs200097755	0.00002
NM_001395413.1(POR):c.893G>A (p.Arg298His)	rs782125318	0.00002
NM_001395413.1(POR):c.938G>C (p.Arg313Thr)	rs782572970	0.00002
NM_001395413.1(POR):c.1033G>A (p.Val345Ile)	rs373128937	0.00001
NM_001395413.1(POR):c.1057+3G>A	rs1247013812	0.00001
NM_001395413.1(POR):c.938+3A>G	rs782232516	0.00001
NM_001395413.1(POR):c.967T>C (p.Tyr323His)	rs782419727	0.00001
NM_001395413.1(POR):c.1048A>C (p.Asn350His)
NM_001395413.1(POR):c.829G>A (p.Asp277Asn)
NM_001395413.1(POR):c.842C>T (p.Pro281Leu)
NM_001395413.1(POR):c.891G>C (p.Glu297Asp)
NM_001395413.1(POR):c.939-14A>C	rs886062441
NM_001395413.1(POR):c.955C>T (p.His319Tyr)
NM_001395413.1(POR):c.985G>A (p.Ala329Thr)	rs1469610345

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