List of variants reported as likely pathogenic for syndromic dyslipidemia by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)	rs150734953	0.00007
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)	rs1406298698	0.00001
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro)	rs2133436727
NM_000404.4(GLB1):c.553-2A>T	rs2125533195
NM_000431.4(MVK):c.689_690del (p.Leu230fs)	rs1593026935
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)	rs1470602732
NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr)	rs2120355008
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)	rs1602206514
NM_014489.4(PGAP2):c.449T>C (p.Phe150Ser)	rs1590416370

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