List of variants reported as likely pathogenic for syndromic dyslipidemia by Illumina Laboratory Services, Illumina

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	rs137852988	0.00022
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)	rs72547561	0.00006
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	rs80338855	0.00001
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)	rs72547567
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)	rs1559391480
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	rs765512351
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)	rs758739930
NM_001360.3(DHCR7):c.964-1G>T	rs138659167
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	rs587777396
NM_032634.4(PIGO):c.2854+1G>A	rs1829364614

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