ClinVar Miner

Variants in gene DHCR7 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
677 135 0 104 52 0 45 177

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 86 19 0 0
likely pathogenic 86 0 38 1 0
uncertain significance 19 38 0 47 11
likely benign 0 1 47 0 18
benign 0 0 11 18 0

All variants with conflicting interpretations #

Total variants: 177
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.-23T>C rs12573951 0.04501
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
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.99-10G>A rs189549129 0.00495
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
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.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) rs148081697 0.00075
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_001360.3(DHCR7):c.582C>T (p.Phe194=) rs150603941 0.00038
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.139C>T (p.Leu47=) rs140721259 0.00027
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
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.1410G>A (p.Leu470=) rs375993195 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
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.1365C>T (p.Tyr455=) rs557097410 0.00010
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00009
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) rs147850435 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 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.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.522C>T (p.Phe174=) rs140648594 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.957G>A (p.Thr319=) rs200157761 0.00006
NM_001360.3(DHCR7):c.288C>T (p.Ala96=) rs745595242 0.00005
NM_001360.3(DHCR7):c.69C>T (p.Thr23=) rs199798127 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
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.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter) rs536394774 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001360.3(DHCR7):c.198C>T (p.Cys66=) rs775127532 0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) rs779401555 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 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.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360.3(DHCR7):c.99-11C>T rs371964662 0.00002
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 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.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693 0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 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.225C>T (p.Ile75=) rs755182484 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.322-7G>A rs1359774813 0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) rs121912195 0.00001
NM_001360.3(DHCR7):c.412+3A>T rs786200926 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 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.655T>G (p.Tyr219Asp) rs779896782 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.82C>T (p.Gln28Ter) rs756564881 0.00001
NM_001360.3(DHCR7):c.831+7G>A rs1318919210 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter) rs774187452 0.00001
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu) rs1085307926 0.00001
NM_001360.3(DHCR7):c.*161_*172del rs141483210
NM_001360.3(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter) rs1591107421
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
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.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter) rs140791666
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro) rs781687341
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.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter) rs1057516977
NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter)
NM_001360.3(DHCR7):c.231C>G (p.Thr77=) rs4316537
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001360.3(DHCR7):c.322-9G>A rs2135945639
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter) rs1949357136
NM_001360.3(DHCR7):c.413-12C>T
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.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.592A>G (p.Lys198Glu)
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr) rs767031102
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter) rs104894212
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)
NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly)
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys) rs139787408
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
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>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.3(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.3(DHCR7):c.963+1G>T rs1057516973
NM_001360.3(DHCR7):c.963+2T>G rs1057517070
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610

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