ClinVar Miner

List of variants reported as likely pathogenic for Smith-Lemli-Opitz syndrome by Invitae

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605 0.00001
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys) rs1481450955 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu) rs781687341 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.412+3A>T rs786200926 0.00001
NM_001360.3(DHCR7):c.413-2A>G rs775575609 0.00001
NM_001360.3(DHCR7):c.627-1G>A rs1057517210 0.00001
NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser) rs1329227520 0.00001
NM_001360.3(DHCR7):c.831+2T>A rs1057516920 0.00001
NC_000011.9:g.(?_71146411)_(71152496_?)del
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val)
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly) rs371302153
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His) rs1949268223
NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe) rs1219026826
NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His) rs747656720
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp) rs2135939533
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) rs751604696
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)
NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)
NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)
NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)
NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)
NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)
NM_001360.3(DHCR7):c.322-1G>A rs1565588719
NM_001360.3(DHCR7):c.322-1G>C rs1565588719
NM_001360.3(DHCR7):c.373T>C (p.Tyr125His)
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys) rs2135945513
NM_001360.3(DHCR7):c.412+2T>C
NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn)
NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys)
NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr) rs2135944619
NM_001360.3(DHCR7):c.626+2del
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)
NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu)
NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser) rs767031102
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.817G>A (p.Val273Ile)
NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr) rs774275482
NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp)
NM_001360.3(DHCR7):c.901C>A (p.His301Asn)
NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu)
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp)
NM_001360.3(DHCR7):c.952T>C (p.Tyr318His)
NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys) rs1457166572
NM_001360.3(DHCR7):c.977T>G (p.Val326Gly) rs1333822866
NM_001360.3(DHCR7):c.98+1G>T
NM_001360.3(DHCR7):c.98+2_98+6del rs1301873688

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