List of variants reported as pathogenic for syndromic dyslipidemia by Genetic Services Laboratory, University of Chicago

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	rs1805137	0.00048
NM_000288.4(PEX7):c.903+1G>C	rs148591292	0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	rs61753238	0.00010
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)	rs1554331461
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)	rs1554333636
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)	rs797045835
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)	rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)	rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)	rs587784226

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