ClinVar Miner

List of variants reported as likely pathogenic for overnutrition by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609 0.00001
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) rs121913566
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.706del (p.Arg236fs)
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005912.3(MC4R):c.906T>G (p.Tyr302Ter)

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