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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)	rs121434322	0.00008
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_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	rs80338778	0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)	rs769266169	0.00002
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_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)	rs770921101
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)	rs765301342
NM_001370658.1(BTD):c.-17+1G>A	rs1057516440
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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