ClinVar Miner

Variants in gene DHCR7 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 86
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
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.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
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.1342G>A (p.Glu448Lys) rs80338864 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.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 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.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.292C>T (p.Gln98Ter) rs104886039 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.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter) rs756564881 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.1004del (p.Pro335fs) rs1555145646
NM_001360.3(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
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.1228G>C (p.Gly410Arg) rs80338862
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.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.16C>T (p.Gln6Ter) rs1057516977
NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter)
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
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.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.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.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.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)
NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
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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