ClinVar Miner

List of variants in gene DHCR7 reported as uncertain significance for 46,XY disorder of sex development due to a cholesterol synthesis defect

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_001163817.1(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001360.2(DHCR7):c.*119G>A rs151230950
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.*644G>A rs886048614
NM_001360.2(DHCR7):c.*681T>C rs886048613
NM_001360.2(DHCR7):c.*700G>A rs886048612
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.-34T>G rs145915789
NM_001360.2(DHCR7):c.-6-4G>A rs183610891
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1010_1018del9 (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.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.1210C>A (p.Arg404Ser) rs61757582
NM_001360.2(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
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.1273G>A (p.Gly425Ser) rs760242
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.1348delC (p.Arg450Alafs) rs886042362
NM_001360.2(DHCR7):c.1349G>A (p.Arg450His) rs542266962
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.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.2(DHCR7):c.1389C>T (p.Thr463=) rs200477386
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.223A>T (p.Ile75Phe) rs370748173
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.289G>A (p.Ala97Thr) rs150563256
NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) rs143587828
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.400G>T (p.Val134Leu) rs201466849
NM_001360.2(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys)
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.570C>T (p.Ala190=) rs74909468
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.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
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.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.862G>A (p.Glu288Lys) rs565893436
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
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.988G>A (p.Val330Met) rs139724817
NM_001360.2(DHCR7):c.99-5C>T rs372886043

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