List of variants in gene MC2R reported as likely pathogenic for Glucocorticoid deficiency 1

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000529.2(MC2R):c.437G>A (p.Arg146His)	rs758709668	0.00001
NM_000529.2(MC2R):c.548dup (p.Leu184fs)
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg)	rs761911005
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs)	rs1567895448

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