List of variants reported as pathogenic for cholesterol metabolism disease by Illumina Laboratory Services, Illumina

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00072
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	rs80338856	0.00012
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	rs573951598	0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	rs398123607	0.00001
NM_001360.3(DHCR7):c.964-1G>C	rs138659167

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