ClinVar Miner

List of variants reported as uncertain significance for Smith-Lemli-Opitz syndrome by Counsyl

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Total variants: 41
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HGVS dbSNP
NM_001360.2(DHCR7):c.1010_1018del (p.Ala337_Gly339del) rs1555145633
NM_001360.2(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.2(DHCR7):c.1025T>C (p.Leu342Pro) rs199957106
NM_001360.2(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.2(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.2(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.2(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.2(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524
NM_001360.2(DHCR7):c.1277A>C (p.His426Pro) rs1354718634
NM_001360.2(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679
NM_001360.2(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.2(DHCR7):c.1349G>A (p.Arg450His) rs542266962
NM_001360.2(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.2(DHCR7):c.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.2(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993
NM_001360.2(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.2(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.2(DHCR7):c.160G>A (p.Val54Ile) rs779222334
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.232G>A (p.Gly78Arg) rs373352413
NM_001360.2(DHCR7):c.397G>A (p.Ala133Thr) rs763333510
NM_001360.2(DHCR7):c.400G>T (p.Val134Leu) rs201466849
NM_001360.2(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.2(DHCR7):c.521T>C (p.Phe174Ser) rs769218623
NM_001360.2(DHCR7):c.523G>A (p.Asp175Asn) rs368269558
NM_001360.2(DHCR7):c.532A>T (p.Ile178Phe) rs1223603615
NM_001360.2(DHCR7):c.536C>T (p.Pro179Leu) rs1555146436
NM_001360.2(DHCR7):c.638G>A (p.Gly213Asp) rs769583377
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.670G>A (p.Glu224Lys) rs373121544
NM_001360.2(DHCR7):c.682C>T (p.Arg228Trp) rs775773057
NM_001360.2(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.2(DHCR7):c.728C>G (p.Pro243Arg) rs777248132
NM_001360.2(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.2(DHCR7):c.770C>T (p.Ala257Val) rs770925697
NM_001360.2(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001360.2(DHCR7):c.955A>G (p.Thr319Ala) rs1362583959
NM_001360.2(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.2(DHCR7):c.99-5C>T rs372886043

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