List of variants in gene MC2R reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000529.2(MC2R):c.765G>A (p.Met255Ile)	rs181640454	0.00062
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)	rs104894658	0.00033
NM_000529.2(MC2R):c.433C>T (p.Arg145Cys)	rs139218324	0.00004
NM_000529.2(MC2R):c.634del (p.Arg212fs)	rs1226345778	0.00002
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)	rs104894660	0.00001
NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)	rs1208417750
NM_000529.2(MC2R):c.459dup (p.Ile154fs)	rs1555619430
NM_000529.2(MC2R):c.465G>C (p.Trp155Cys)	rs1555619429
NM_000529.2(MC2R):c.560del (p.Val187fs)	rs1555619406
NM_000529.2(MC2R):c.573C>A (p.Cys191Ter)	rs762692123
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)	rs28926178

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