ClinVar Miner

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

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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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