ClinVar Miner

List of variants studied for Smith-Lemli-Opitz syndrome by GeneReviews

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Total variants: 12
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HGVS dbSNP
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001360.2(DHCR7):c.832-1G>C rs80338863
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859

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