ClinVar Miner

List of variants in gene DHCR7 reported as uncertain significance for syndromic dyslipidemia

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 257
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_001360.3(DHCR7):c.*192C>T rs115338563 0.00961
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_001360.3(DHCR7):c.*226C>T rs185557595 0.00672
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_001360.3(DHCR7):c.*28G>T rs114143715 0.00500
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_001360.3(DHCR7):c.*755C>T rs58046295 0.00355
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001360.3(DHCR7):c.*779T>C rs541282653 0.00081
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) rs148081697 0.00075
NM_001360.3(DHCR7):c.-6-4G>A rs183610891 0.00056
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001360.3(DHCR7):c.*424G>A rs886048616 0.00048
NM_001360.3(DHCR7):c.*85C>T rs528375215 0.00042
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_001360.3(DHCR7):c.*417C>T rs537429160 0.00019
NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr) rs142897396 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His) rs200539324 0.00012
NM_001360.3(DHCR7):c.*790C>T rs12407 0.00011
NM_001360.3(DHCR7):c.127G>A (p.Val43Ile) rs200984695 0.00011
NM_001360.3(DHCR7):c.431A>G (p.Gln144Arg) rs776246504 0.00011
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val) rs398123606 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001360.3(DHCR7):c.122C>T (p.Ala41Val) rs761265690 0.00008
NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp) rs772572550 0.00008
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993 0.00007
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=) rs781026169 0.00007
NM_001360.3(DHCR7):c.-146C>T rs903720947 0.00006
NM_001360.3(DHCR7):c.-34T>G rs145915789 0.00006
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852 0.00006
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) rs201150384 0.00006
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.1099C>T (p.Arg367Cys) rs531038145 0.00005
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) rs370748173 0.00005
NM_001360.3(DHCR7):c.418G>A (p.Val140Met) rs373908315 0.00005
NM_001360.3(DHCR7):c.571G>A (p.Val191Ile) rs532635888 0.00005
NM_001360.3(DHCR7):c.*57C>T rs182965373 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001360.3(DHCR7):c.1156G>A (p.Asp386Asn) rs369837196 0.00004
NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser) rs201847193 0.00004
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile) rs779222334 0.00004
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp) rs775735710 0.00004
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr) rs151170252 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_001360.3(DHCR7):c.*4C>T rs371307569 0.00003
NM_001360.3(DHCR7):c.*761A>T rs886048611 0.00003
NM_001360.3(DHCR7):c.1267G>A (p.Gly423Ser) rs902179640 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001360.3(DHCR7):c.736G>A (p.Val246Ile) rs759967245 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001360.3(DHCR7):c.*261G>A rs886048617 0.00002
NM_001360.3(DHCR7):c.*700G>A rs886048612 0.00002
NM_001360.3(DHCR7):c.1159G>A (p.Gly387Arg) rs765707139 0.00002
NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524 0.00002
NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp) rs371873032 0.00002
NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_001360.3(DHCR7):c.520T>G (p.Phe174Val) rs886044698 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360.3(DHCR7):c.99-11C>T rs371964662 0.00002
NM_001360.3(DHCR7):c.99-16G>A rs993275449 0.00002
NM_001360.3(DHCR7):c.*101C>G rs1466730753 0.00001
NM_001360.3(DHCR7):c.*25G>A rs778207094 0.00001
NM_001360.3(DHCR7):c.*644G>A rs886048614 0.00001
NM_001360.3(DHCR7):c.*765G>A rs777137931 0.00001
NM_001360.3(DHCR7):c.-132+3G>A rs886048618 0.00001
NM_001360.3(DHCR7):c.-145C>G rs1398299576 0.00001
NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227 0.00001
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.1153G>A (p.Ala385Thr) rs750989470 0.00001
NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile) rs757861528 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg) rs373352413 0.00001
NM_001360.3(DHCR7):c.322-7G>A rs1359774813 0.00001
NM_001360.3(DHCR7):c.397G>A (p.Ala133Thr) rs763333510 0.00001
NM_001360.3(DHCR7):c.412+4G>A rs776841323 0.00001
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr) rs767716202 0.00001
NM_001360.3(DHCR7):c.51C>T (p.Gly17=) rs776713087 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn) rs368269558 0.00001
NM_001360.3(DHCR7):c.52G>A (p.Val18Ile) rs770947907 0.00001
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp) rs769583377 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.658A>T (p.Met220Leu) rs200659923 0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys) rs373121544 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247 0.00001
NM_001360.3(DHCR7):c.778C>G (p.Arg260Gly) rs777617141 0.00001
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile) rs775628929 0.00001
NM_001360.3(DHCR7):c.947A>G (p.Tyr316Cys) rs754992933 0.00001
NM_001360.3(DHCR7):c.956C>T (p.Thr319Met) rs766583874 0.00001
NM_001360.3(DHCR7):c.*20G>T rs747532529
NM_001360.3(DHCR7):c.*324C>T rs759058043
NM_001360.3(DHCR7):c.*438G>A rs886048615
NM_001360.3(DHCR7):c.*63G>T rs918545080
NM_001360.3(DHCR7):c.*681T>C rs886048613
NM_001360.3(DHCR7):c.*723C>A rs1024548576
NM_001360.3(DHCR7):c.-192C>T rs886048619
NM_001360.3(DHCR7):c.-209G>A rs886048620
NM_001360.3(DHCR7):c.1001C>G (p.Thr334Ser)
NM_001360.3(DHCR7):c.1001C>T (p.Thr334Ile)
NM_001360.3(DHCR7):c.1004C>T (p.Pro335Leu)
NM_001360.3(DHCR7):c.1010_1018del (p.Ala337_Gly339del) rs1555145633
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro) rs199957106
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp) rs1409887214
NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val) rs1949272319
NM_001360.3(DHCR7):c.106G>A (p.Asp36Asn) rs2120355049
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.3(DHCR7):c.1093G>T (p.Asp365Tyr)
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.3(DHCR7):c.109T>G (p.Trp37Gly)
NM_001360.3(DHCR7):c.1141T>C (p.Ser381Pro)
NM_001360.3(DHCR7):c.1156G>C (p.Asp386His)
NM_001360.3(DHCR7):c.1163A>C (p.Gln388Pro)
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr) rs544442568
NM_001360.3(DHCR7):c.1170C>A (p.His390Gln)
NM_001360.3(DHCR7):c.1172A>C (p.His391Pro)
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.1215C>G (p.His405Gln)
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu) rs1949268068
NM_001360.3(DHCR7):c.121G>C (p.Ala41Pro)
NM_001360.3(DHCR7):c.1270G>T (p.Gly424Cys)
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe) rs1565584679
NM_001360.3(DHCR7):c.1297A>G (p.Ile433Val) rs1244124212
NM_001360.3(DHCR7):c.1321A>G (p.Thr441Ala) rs749728888
NM_001360.3(DHCR7):c.1324C>T (p.His442Tyr)
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup) rs766416330
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.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1359C>T (p.Ser453=)
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe) rs1949264089
NM_001360.3(DHCR7):c.1373A>G (p.Asp458Gly)
NM_001360.3(DHCR7):c.1375T>C (p.Trp459Arg)
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.1379A>G (p.Glu460Gly)
NM_001360.3(DHCR7):c.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.3(DHCR7):c.1393G>T (p.Ala465Ser)
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.148G>A (p.Ala50Thr)
NM_001360.3(DHCR7):c.14C>G (p.Ser5Trp)
NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.3(DHCR7):c.156C>G (p.Phe52Leu)
NM_001360.3(DHCR7):c.207_208delinsCC (p.Gly70Arg) rs2120355002
NM_001360.3(DHCR7):c.214G>A (p.Val72Met)
NM_001360.3(DHCR7):c.220G>A (p.Asp74Asn)
NM_001360.3(DHCR7):c.230C>T (p.Thr77Ile)
NM_001360.3(DHCR7):c.231C>G (p.Thr77=) rs4316537
NM_001360.3(DHCR7):c.239C>T (p.Ala80Val) rs1949376985
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
NM_001360.3(DHCR7):c.299A>G (p.Tyr100Cys)
NM_001360.3(DHCR7):c.306G>C (p.Leu102Phe)
NM_001360.3(DHCR7):c.310G>T (p.Val104Phe)
NM_001360.3(DHCR7):c.314C>A (p.Thr105Asn)
NM_001360.3(DHCR7):c.322-9G>A rs2135945639
NM_001360.3(DHCR7):c.322G>T (p.Val108Leu)
NM_001360.3(DHCR7):c.335C>T (p.Thr112Met)
NM_001360.3(DHCR7):c.353G>A (p.Cys118Tyr)
NM_001360.3(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)
NM_001360.3(DHCR7):c.38A>G (p.Lys13Arg)
NM_001360.3(DHCR7):c.412+3A>G rs786200926
NM_001360.3(DHCR7):c.413-12C>T
NM_001360.3(DHCR7):c.415G>C (p.Val139Leu)
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.3(DHCR7):c.438_439inv (p.Gly147Ser)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro) rs1949390350
NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe) rs1949346801
NM_001360.3(DHCR7):c.475T>C (p.Phe159Leu)
NM_001360.3(DHCR7):c.488A>G (p.His163Arg)
NM_001360.3(DHCR7):c.496T>G (p.Ser166Ala)
NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe) rs1223603615
NM_001360.3(DHCR7):c.536C>T (p.Pro179Leu) rs1555146436
NM_001360.3(DHCR7):c.550G>A (p.Ala184Thr)
NM_001360.3(DHCR7):c.560T>C (p.Leu187Pro) rs1565587998
NM_001360.3(DHCR7):c.578C>G (p.Thr193Ser)
NM_001360.3(DHCR7):c.587T>C (p.Met196Thr)
NM_001360.3(DHCR7):c.626+1013G>A
NM_001360.3(DHCR7):c.626+3A>G
NM_001360.3(DHCR7):c.626+7T>A rs1949344052
NM_001360.3(DHCR7):c.634A>G (p.Thr212Ala) rs976105626
NM_001360.3(DHCR7):c.646T>G (p.Phe216Val)
NM_001360.3(DHCR7):c.650A>G (p.Tyr217Cys)
NM_001360.3(DHCR7):c.654C>A (p.Asn218Lys) rs1949321790
NM_001360.3(DHCR7):c.658A>G (p.Met220Val)
NM_001360.3(DHCR7):c.660G>C (p.Met220Ile) rs767377692
NM_001360.3(DHCR7):c.660G>T (p.Met220Ile)
NM_001360.3(DHCR7):c.661A>G (p.Met221Val)
NM_001360.3(DHCR7):c.662T>G (p.Met221Arg) rs943223142
NM_001360.3(DHCR7):c.676A>G (p.Asn226Asp)
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met) rs267603172
NM_001360.3(DHCR7):c.694T>C (p.Trp232Arg)
NM_001360.3(DHCR7):c.700G>C (p.Asp234His)
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.3(DHCR7):c.70G>A (p.Ala24Thr) rs146867923
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.3(DHCR7):c.760T>C (p.Ser254Pro)
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser) rs772639348
NM_001360.3(DHCR7):c.779G>A (p.Arg260Gln)
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.791G>A (p.Ser264Asn)
NM_001360.3(DHCR7):c.803A>G (p.Asn268Ser)
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.809T>C (p.Met270Thr)
NM_001360.3(DHCR7):c.830A>G (p.Gln277Arg)
NM_001360.3(DHCR7):c.831+4C>T
NM_001360.3(DHCR7):c.835A>G (p.Ile279Val)
NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del)
NM_001360.3(DHCR7):c.858G>T (p.Trp286Cys)
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.909G>T (p.Gly303=) rs2135941816
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.928G>A (p.Asp310Asn)
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys) rs1555145862
NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu) rs1949301977
NM_001360.3(DHCR7):c.955A>G (p.Thr319Ala) rs1362583959
NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro) rs1949301409
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.3(DHCR7):c.979T>C (p.Tyr327His)

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