List of variants in gene MC4R 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_005912.3(MC4R):c.307G>A (p.Val103Ile)	rs2229616	0.01533
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)	rs52820871	0.00774
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	rs121913563	0.00031
NM_005912.3(MC4R):c.757G>A (p.Val253Ile)	rs187152753	0.00014
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)	rs13447324	0.00013
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)	rs13447325	0.00013
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	rs79783591	0.00011
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	rs766665118	0.00003
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro)	rs376439188	0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)	rs370479598	0.00001
NM_005912.3(MC4R):c.838T>C (p.Phe280Leu)	rs756232889	0.00001
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer)	rs770293321
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)	rs121913562
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln)	rs775382722

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