List of variants studied for syndromic dyslipidemia by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	rs150885084	0.00003
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter)	rs776800006	0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	rs779709646	0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)	rs769218623	0.00001
NM_014489.4(PGAP2):c.881C>T (p.Thr294Met)	rs747658866	0.00001
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	rs768119034
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del)	rs1555810299
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)	rs1555945553
NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter)	rs1590414630
NM_033419.5(PGAP3):c.280del (p.Trp94fs)	rs1555610292
NM_033419.5(PGAP3):c.75_81dup (p.Val28Ter)	rs2057593272
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly)	rs869312814

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