List of variants in gene DHCR7 reported as likely pathogenic for Smith-Lemli-Opitz syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 171

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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.1349G>A (p.Arg450His)	rs542266962	0.00010
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.89G>C (p.Gly30Ala)	rs200334114	0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)	rs370307688	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.1336C>T (p.Arg446Trp)	rs145043679	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.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.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.1146C>A (p.Tyr382Ter)	rs1555145605	0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)	rs770819693	0.00001
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys)	rs1481450955	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.1328G>T (p.Arg443Leu)	rs781687341	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.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.413-2A>G	rs775575609	0.00001
NM_001360.3(DHCR7):c.429T>G (p.Tyr143Ter)	rs1393186135	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.626+1G>T	rs1471145742	0.00001
NM_001360.3(DHCR7):c.627-1G>A	rs1057517210	0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	rs779896782	0.00001
NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser)	rs1329227520	0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)	rs756564881	0.00001
NM_001360.3(DHCR7):c.831+2T>A	rs1057516920	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
GRCh37/hg19 11q13.4(chr11:71155018-71156024)
NC_000011.9:g.(?_71146411)_(71152496_?)del
NM_001360.3(DHCR7):c.1004del (p.Pro335fs)	rs1555145646
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)	rs1317526744
NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val)
NM_001360.3(DHCR7):c.1057del (p.Val353fs)	rs759720450
NM_001360.3(DHCR7):c.1066del (p.His356fs)	rs774291653
NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs)	rs1057516517
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)	rs371302153
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)	rs1591107421
NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter)	rs1467346010
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)	rs773134475
NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter)	rs1057516493
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.1211G>A (p.Arg404His)	rs1949268223
NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe)	rs1219026826
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.1294T>C (p.Tyr432His)	rs747656720
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp)	rs2135939533
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	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.1342_1344delinsC (p.Glu448fs)	rs1591107062
NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)	rs886042362
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)	rs201270451
NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)
NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)
NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)	rs201150384
NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys)	rs775034584
NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)
NM_001360.3(DHCR7):c.155_157delinsCCAT (p.Phe52fs)
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)	rs1057516977
NM_001360.3(DHCR7):c.177_178delinsT (p.Met59fs)
NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr)	rs2120355008
NM_001360.3(DHCR7):c.199del (p.Ala67fs)
NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)	rs104886041
NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter)	rs1949375897
NM_001360.3(DHCR7):c.305T>A (p.Leu102Ter)
NM_001360.3(DHCR7):c.322-1G>A	rs1565588719
NM_001360.3(DHCR7):c.322-1G>C	rs1565588719
NM_001360.3(DHCR7):c.322-2A>G	rs1555146618
NM_001360.3(DHCR7):c.355del (p.His119fs)	rs747827699
NM_001360.3(DHCR7):c.356A>T (p.His119Leu)	rs28938174
NM_001360.3(DHCR7):c.373T>C (p.Tyr125His)
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys)	rs2135945513
NM_001360.3(DHCR7):c.385_412+5del	rs746482788
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)	rs1949357136
NM_001360.3(DHCR7):c.401_402del (p.Val134fs)
NM_001360.3(DHCR7):c.412+2T>C
NM_001360.3(DHCR7):c.413-1G>A	rs1057517307
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.473G>A (p.Trp158Ter)
NM_001360.3(DHCR7):c.495_496del (p.Ser166fs)
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)	rs1427321619
NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn)
NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys)
NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr)	rs2135944619
NM_001360.3(DHCR7):c.567T>A (p.Tyr189Ter)
NM_001360.3(DHCR7):c.626+1G>C	rs1471145742
NM_001360.3(DHCR7):c.626+2del
NM_001360.3(DHCR7):c.626+2dup	rs1591111319
NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter)	rs1949322246
NM_001360.3(DHCR7):c.630del (p.Lys210fs)
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)
NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu)
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser)	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.782A>G (p.Glu261Gly)	rs1406131499
NM_001360.3(DHCR7):c.803del (p.Asn268fs)	rs1555146023
NM_001360.3(DHCR7):c.804del (p.Asn268fs)	rs1057516783
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	rs1555146021
NM_001360.3(DHCR7):c.817G>A (p.Val273Ile)
NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr)	rs774275482
NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)	rs184297154
NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter)	rs1555145877
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys)	rs766495775
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer)	rs1555145874
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter)	rs769639753
NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp)
NM_001360.3(DHCR7):c.901C>A (p.His301Asn)
NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	rs80338858
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)	rs142808899
NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu)
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.926G>A (p.Gly309Asp)
NM_001360.3(DHCR7):c.934_935del (p.Val312fs)	rs1469918162
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter)	rs1555145862
NM_001360.3(DHCR7):c.952T>C (p.Tyr318His)
NM_001360.3(DHCR7):c.952del (p.Tyr318fs)	rs1555145859
NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys)	rs1457166572
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.977T>G (p.Val326Gly)	rs1333822866
NM_001360.3(DHCR7):c.98+1G>T
NM_001360.3(DHCR7):c.98+2_98+6del	rs1301873688
NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter)	rs1057516375
NM_001360.3(DHCR7):c.99-1G>C	rs1451108193
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter)	rs1057516610
NM_001360.3(DHCR7):c.995del (p.Leu332fs)	rs1057516618
NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter)

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