ClinVar Miner

List of variants in gene DHCR7 reported as pathogenic for canthal anomaly

Included ClinVar conditions (57):
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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP
DHCR7, 1-BP INS, 505C
DHCR7, 1-BP INS, 586T
DHCR7, 96-BP DEL
DHCR7, TRP37TER
NC_000011.10:g.(?_71441217)_(71441450_?)del
NC_000011.10:g.(?_71441217)_(71444962_?)del
NC_000011.10:g.(?_71443983)_(71444962_?)del
NC_000011.9:g.(?_71146411)_(71146895_?)del
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001163817.2(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser) rs104886035
NM_001360.2(DHCR7):c.1A>C (p.Met1Leu) rs104886033
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) rs121909767
NM_001360.2(DHCR7):c.412+3A>T rs786200926
NM_001360.2(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter) rs104894213
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817
NM_001360.2(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525
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.728C>G (p.Pro243Arg) rs777248132
NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys) rs104894212
NM_001360.2(DHCR7):c.832-1G>C rs80338863
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.870G>A (p.Trp290Ter) rs774187452
NM_001360.2(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
NM_001360.2(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.963+1G>T rs1057516973
NM_001360.2(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)
NM_001360.3(DHCR7):c.1325A>G (p.His442Arg)
NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro)
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter)
NM_001360.3(DHCR7):c.600C>G (p.Tyr200Ter)
NM_001360.3(DHCR7):c.626+2dup rs1591111319
NM_001360.3(DHCR7):c.696G>A (p.Trp232Ter) rs1591109892
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr)
NM_001360.3(DHCR7):c.89del (p.Gly30fs)
NM_001360.3(DHCR7):c.964-1G>C rs138659167

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