ClinVar Miner

List of variants in gene MC4R studied for monogenic diabetes

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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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.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser) rs202228712 0.00043
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala) rs372794914 0.00003
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn) rs752432398 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451 0.00001
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) rs368264587 0.00001

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