ClinVar Miner

List of variants in gene MC2R reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
MC2R, 1-BP INS, 1347A
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658
NM_000529.2(MC2R):c.319G>A (p.Asp107Asn) rs104894661
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg) rs104894656
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser) rs267607231
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys) rs104894657
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) rs104894660
NM_000529.2(MC2R):c.424G>T (p.Val142Leu) rs199950178
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter) rs104894659
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg) rs1555619377
NM_000529.2(MC2R):c.702del (p.Phe235fs) rs1555619372
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe) rs104894662
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys) rs28940892

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