ClinVar Miner

List of variants studied for Smith-Lemli-Opitz syndrome by Genome-Nilou Lab

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.90380
NM_001360.3(DHCR7):c.832-80T>C rs949176 0.86228
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_001360.3(DHCR7):c.831+69G>A rs1792265 0.83923
NM_001360.3(DHCR7):c.964-67C>T rs1792268 0.83849
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_001360.3(DHCR7):c.322-60G>T rs11603330 0.53778
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08662
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_001360.3(DHCR7):c.582C>T (p.Phe194=) rs150603941 0.00038
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_001360.3(DHCR7):c.15G>A (p.Ser5=) rs147038941 0.00009
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.321+219C>T rs12422045
NM_001360.3(DHCR7):c.964-1G>C rs138659167

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