ClinVar Miner

List of variants studied for adrenocortical insufficiency by Pecori Giraldi Lab, University of Milan

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_001395413.1(POR):c.1707G>A (p.Ser569=) rs1057870 0.28425
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_001395413.1(POR):c.1239+20G>A rs2286823 0.27178
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001395413.1(POR):c.822-35C>T rs41301394 0.25679
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982

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