List of variants in gene MC2R reported as pathogenic for adrenocortical 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)	rs104894658	0.00033
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg)	rs104894656	0.00003
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)	rs104894657	0.00002
NM_000529.2(MC2R):c.319G>A (p.Asp107Asn)	rs104894661	0.00001
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)	rs104894660	0.00001
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser)	rs267607231
NM_000529.2(MC2R):c.424G>T (p.Val142Leu)	rs199950178
NM_000529.2(MC2R):c.459dup (p.Ile154fs)	rs1555619430
NM_000529.2(MC2R):c.560del (p.Val187fs)	rs1555619406
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)	rs104894659
NM_000529.2(MC2R):c.652_653insA (p.Ala218fs)
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)	rs1555619377
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs)	rs1567895448
NM_000529.2(MC2R):c.702del (p.Phe235fs)	rs1555619372
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe)	rs104894662
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)	rs28940892

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