ClinVar Miner

List of variants in gene DHCR7 studied for Smith-Lemli-Opitz syndrome

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP
DHCR7, 1-BP INS, 505C
DHCR7, 1-BP INS, 586T
DHCR7, 96-BP DEL
DHCR7, PHE284LEU
DHCR7, TRP37TER
NM_001360.2(DHCR7):c.*119G>A rs151230950
NM_001360.2(DHCR7):c.*161_*172delCTGTTCCTTGCT rs141483210
NM_001360.2(DHCR7):c.*25G>A rs778207094
NM_001360.2(DHCR7):c.*261G>A rs886048617
NM_001360.2(DHCR7):c.*324C>T rs759058043
NM_001360.2(DHCR7):c.*417C>T rs537429160
NM_001360.2(DHCR7):c.*424G>A rs886048616
NM_001360.2(DHCR7):c.*438G>A rs886048615
NM_001360.2(DHCR7):c.*451A>G rs11233662
NM_001360.2(DHCR7):c.*480C>T rs1790345
NM_001360.2(DHCR7):c.*643C>T rs1044535
NM_001360.2(DHCR7):c.*644G>A rs886048614
NM_001360.2(DHCR7):c.*681T>C rs886048613
NM_001360.2(DHCR7):c.*700G>A rs886048612
NM_001360.2(DHCR7):c.*734A>G rs7690
NM_001360.2(DHCR7):c.*761A>T rs886048611
NM_001360.2(DHCR7):c.*765G>A rs777137931
NM_001360.2(DHCR7):c.*779T>C rs541282653
NM_001360.2(DHCR7):c.*790C>T rs12407
NM_001360.2(DHCR7):c.-132+3G>A rs886048618
NM_001360.2(DHCR7):c.-192C>T rs886048619
NM_001360.2(DHCR7):c.-195G>T rs141057811
NM_001360.2(DHCR7):c.-209G>A rs886048620
NM_001360.2(DHCR7):c.-225C>G rs4944946
NM_001360.2(DHCR7):c.-225C>T rs4944946
NM_001360.2(DHCR7):c.-23T>C rs12573951
NM_001360.2(DHCR7):c.-34T>G rs145915789
NM_001360.2(DHCR7):c.-35C>T rs75974711
NM_001360.2(DHCR7):c.-6-4G>A rs183610891
NM_001360.2(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1010_1018del (p.Ala337_Gly339del) rs1555145633
NM_001360.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
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.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.2(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.2(DHCR7):c.1080_1081del (p.Phe361fs) rs1057516517
NM_001360.2(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227
NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.2(DHCR7):c.111G>A (p.Trp37Ter) rs750345068
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605
NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) rs760241
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu)
NM_001360.2(DHCR7):c.1199G>A (p.Trp400Ter) rs1057516493
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.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) rs761265690
NM_001360.2(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524
NM_001360.2(DHCR7):c.126C>T (p.Ser42=) rs150928869
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.2(DHCR7):c.1277A>C (p.His426Pro) rs1354718634
NM_001360.2(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852
NM_001360.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.2(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
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.1349_1350delinsTG (p.Arg450Leu)
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122
NM_001360.2(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.2(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852
NM_001360.2(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.2(DHCR7):c.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.2(DHCR7):c.1389C>T (p.Thr463=) rs200477386
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
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.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.1426T>A (p.Ter476Lys) rs775034584
NM_001360.2(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584
NM_001360.2(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser) rs104886035
NM_001360.2(DHCR7):c.159C>T (p.Ile53=) rs752952700
NM_001360.2(DHCR7):c.160G>A (p.Val54Ile) rs779222334
NM_001360.2(DHCR7):c.16C>T (p.Gln6Ter) rs1057516977
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.207T>C (p.Thr69=) rs1790334
NM_001360.2(DHCR7):c.223A>T (p.Ile75Phe) rs370748173
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.232G>A (p.Gly78Arg) rs373352413
NM_001360.2(DHCR7):c.241C>T (p.Arg81Trp) rs775735710
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001360.2(DHCR7):c.289G>A (p.Ala97Thr) rs150563256
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.322-2A>G rs1555146618
NM_001360.2(DHCR7):c.322_412del rs786200926
NM_001360.2(DHCR7):c.326T>C (p.Leu109Pro) rs121912195
NM_001360.2(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) rs143587828
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.397G>A (p.Ala133Thr) rs763333510
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) rs121909767
NM_001360.2(DHCR7):c.400G>T (p.Val134Leu) rs201466849
NM_001360.2(DHCR7):c.412+3A>G
NM_001360.2(DHCR7):c.413-1G>A rs1057517307
NM_001360.2(DHCR7):c.413-2A>G rs775575609
NM_001360.2(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter) rs104894213
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
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.546G>A (p.Trp182Ter) rs1032242817
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.626+1G>C rs1471145742
NM_001360.2(DHCR7):c.626+1G>T rs1471145742
NM_001360.2(DHCR7):c.627-1G>A rs1057517210
NM_001360.2(DHCR7):c.638G>A (p.Gly213Asp) rs769583377
NM_001360.2(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525
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.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
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.728C>G (p.Pro243Arg) rs777248132
NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys) rs104894212
NM_001360.2(DHCR7):c.770C>T (p.Ala257Val) rs770925697
NM_001360.2(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.2(DHCR7):c.804del (p.Asn268fs) rs1057516783
NM_001360.2(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.2(DHCR7):c.82C>T (p.Gln28Ter) rs756564881
NM_001360.2(DHCR7):c.831+2T>A rs1057516920
NM_001360.2(DHCR7):c.832-1G>C rs80338863
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu)
NM_001360.2(DHCR7):c.858G>A (p.Trp286Ter) rs1555145877
NM_001360.2(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.2(DHCR7):c.862G>A (p.Glu288Lys) rs565893436
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.870G>A (p.Trp290Ter) rs774187452
NM_001360.2(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
NM_001360.2(DHCR7):c.894C>A (p.Cys298Ter) rs769639753
NM_001360.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.907G>T (p.Gly303Trp)
NM_001360.2(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.932_933GT[1] (p.Val312fs) rs1469918162
NM_001360.2(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.2(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.2(DHCR7):c.955A>G (p.Thr319Ala) rs1362583959
NM_001360.2(DHCR7):c.963+1G>T rs1057516973
NM_001360.2(DHCR7):c.963+2T>G rs1057517070
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001360.2(DHCR7):c.964-1G>T rs138659167
NM_001360.2(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.2(DHCR7):c.981C>A (p.Tyr327Ter) rs1057516375
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817
NM_001360.2(DHCR7):c.99-1G>C rs1451108193
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.2(DHCR7):c.99-5C>T rs372886043
NM_001360.2(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610
NM_001360.2(DHCR7):c.995del (p.Leu332fs) rs1057516618

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