ClinVar Miner

List of variants reported for BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 by Fulgent Genetics, Fulgent Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser) rs202228712 0.00043
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_005912.3(MC4R):c.-121G>A rs541962206 0.00003
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala) rs372794914 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_005912.3(MC4R):c.691G>A (p.Gly231Ser) rs1363347811 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn) rs752432398 0.00001
NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys) rs1368643838 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 0.00001
NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys) rs748627503 0.00001
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) rs368264587 0.00001
NM_005912.3(MC4R):c.-59G>A rs750662653
NM_005912.3(MC4R):c.268G>A (p.Asp90Asn) rs2143967167
NM_005912.3(MC4R):c.53G>T (p.Arg18Leu) rs780671601
NM_005912.3(MC4R):c.815C>G (p.Pro272Arg) rs1915338291
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln) rs775382722
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564

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