List of variants reported as not provided for cholesterol metabolism disease by GeneReviews

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Total variants: 15

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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_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	rs80338856	0.00012
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	rs80338862	0.00007
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)	rs61757582	0.00006
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	rs80338859	0.00005
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00004
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)	rs80338860	0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	rs80338855	0.00001
NM_000784.4(CYP27A1):c.355del (p.Arg119fs)	rs587778793
NM_001360.3(DHCR7):c.832-1G>C	rs80338863
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	rs80338858
NM_001360.3(DHCR7):c.964-1G>C	rs138659167

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