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

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 69

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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.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.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.1348del (p.Arg450fs)	rs886042362
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
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.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.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.740C>T (p.Ala247Val)	rs886041354
NM_001360.3(DHCR7):c.803del (p.Asn268fs)	rs1555146023
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	rs1555146021
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.906C>G (p.Phe302Leu)	rs80338858
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.991C>T (p.Gln331Ter)	rs1057516610

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