ClinVar Miner

List of variants studied for sterol biosynthesis disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 370
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_014762.4(DHCR24):c.360C>T (p.Asp120=) rs61733134 0.00798
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu) rs139186585 0.00143
NM_015922.3(NSDHL):c.306C>T (p.Phe102=) rs141089248 0.00138
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551 0.00129
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_014762.4(DHCR24):c.731C>T (p.Pro244Leu) rs138667252 0.00061
NM_015922.3(NSDHL):c.834C>T (p.Phe278=) rs149698967 0.00057
NM_014762.4(DHCR24):c.463G>A (p.Val155Met) rs138933459 0.00051
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_006579.3(EBP):c.650C>T (p.Thr217Met) rs150348311 0.00044
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_000431.4(MVK):c.-15+16C>T rs758229545 0.00041
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_002296.4(LBR):c.1315-13T>C rs201793983 0.00041
NM_000431.4(MVK):c.371+20A>G rs142078694 0.00036
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) rs143587828 0.00030
NM_000431.4(MVK):c.-14-17T>C rs186232847 0.00029
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_006579.3(EBP):c.13G>A (p.Ala5Thr) rs201992088 0.00027
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) rs201360189 0.00022
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) rs104895321 0.00021
NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr) rs142897396 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_015922.3(NSDHL):c.987C>T (p.Val329=) rs149122192 0.00017
NM_000431.4(MVK):c.524A>G (p.Asn175Ser) rs138818135 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His) rs200539324 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705 0.00011
NM_001360.3(DHCR7):c.127G>A (p.Val43Ile) rs200984695 0.00011
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val) rs398123606 0.00011
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 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.690G>C (p.Gly230=) rs773393807 0.00009
NM_001360.3(DHCR7):c.122C>T (p.Ala41Val) rs761265690 0.00008
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993 0.00007
NM_000431.4(MVK):c.-15G>A rs567278499 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000431.4(MVK):c.886-15A>T rs367853629 0.00006
NM_000431.4(MVK):c.889C>A (p.Leu297Ile) rs1047311477 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852 0.00006
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) rs201150384 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_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) rs531038145 0.00005
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) rs370748173 0.00005
NM_001360.3(DHCR7):c.303C>T (p.Thr101=) rs777709295 0.00005
NM_001360.3(DHCR7):c.418G>A (p.Val140Met) rs373908315 0.00005
NM_001360.3(DHCR7):c.964-5C>T rs767108226 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) rs368359145 0.00004
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298 0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332 0.00004
NM_000431.4(MVK):c.681G>A (p.Ser227=) rs764412001 0.00004
NM_000431.4(MVK):c.722G>A (p.Arg241His) rs372166675 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
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.1366G>A (p.Gly456Ser) rs201847193 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.583G>A (p.Ala195Thr) rs151170252 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_006579.3(EBP):c.188G>A (p.Arg63Gln) rs782638360 0.00004
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.372-9G>A rs1325994522 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
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.1267G>A (p.Gly423Ser) rs902179640 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 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.822C>T (p.Asn274=) rs139787408 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_000431.4(MVK):c.298G>A (p.Asp100Asn) rs751713601 0.00002
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320 0.00002
NM_000431.4(MVK):c.37A>T (p.Lys13Ter) rs104895307 0.00002
NM_000431.4(MVK):c.418G>A (p.Gly140Arg) rs781108404 0.00002
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000431.4(MVK):c.927C>T (p.Gly309=) rs762580578 0.00002
NM_001360.3(DHCR7):c.1159G>A (p.Gly387Arg) rs765707139 0.00002
NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp) rs371873032 0.00002
NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001360.3(DHCR7):c.279G>A (p.Thr93=) rs774554996 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_001360.3(DHCR7):c.520T>G (p.Phe174Val) rs886044698 0.00002
NM_001360.3(DHCR7):c.543G>C (p.Leu181=) rs146839126 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) rs781879080 0.00002
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) rs782332983 0.00002
NM_015922.3(NSDHL):c.790-9T>A rs1323999679 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000431.4(MVK):c.1134C>T (p.Ser378=) rs1885921145 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.188A>T (p.Asp63Val) rs1165875328 0.00001
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00001
NM_000431.4(MVK):c.423G>A (p.Ala141=) rs756068705 0.00001
NM_000431.4(MVK):c.483C>T (p.Cys161=) rs777886684 0.00001
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 0.00001
NM_000431.4(MVK):c.58C>A (p.His20Asn) rs11544299 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.721C>T (p.Arg241Cys) rs758427037 0.00001
NM_000431.4(MVK):c.755A>G (p.Asn252Ser) rs112324119 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 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.1146C>A (p.Tyr382Ter) rs1555145605 0.00001
NM_001360.3(DHCR7):c.1153G>A (p.Ala385Thr) rs750989470 0.00001
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693 0.00001
NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile) rs757861528 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.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.342C>A (p.Leu114=) rs773047702 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.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.513C>T (p.Thr171=) rs566499249 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn) rs368269558 0.00001
NM_001360.3(DHCR7):c.52G>A (p.Val18Ile) rs770947907 0.00001
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.626+1G>T rs1471145742 0.00001
NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp) rs769583377 0.00001
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.658A>T (p.Met220Leu) rs200659923 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.778C>G (p.Arg260Gly) rs777617141 0.00001
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile) rs775628929 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.947A>G (p.Tyr316Cys) rs754992933 0.00001
NM_001360.3(DHCR7):c.956C>T (p.Thr319Met) rs766583874 0.00001
NM_001360.3(DHCR7):c.964-10C>T rs753345689 0.00001
NM_001360.3(DHCR7):c.99-7C>T rs1177383343 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002296.4(LBR):c.860T>C (p.Ile287Thr) rs201093644 0.00001
NM_006579.3(EBP):c.414C>T (p.Ile138=) rs976210101 0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041 0.00001
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.565C>T (p.Pro189Ser) rs782376691 0.00001
NM_015922.3(NSDHL):c.612C>T (p.Phe204=) rs782252634 0.00001
GRCh37/hg19 11q13.4(chr11:71155018-71156024)
NM_000431.4(MVK):c.1039+1G>C
NM_000431.4(MVK):c.1059G>A (p.Val353=) rs2136257119
NM_000431.4(MVK):c.1133C>G (p.Ser378Cys)
NM_000431.4(MVK):c.1144del (p.Ala382fs)
NM_000431.4(MVK):c.115C>T (p.Leu39Phe)
NM_000431.4(MVK):c.119G>T (p.Arg40Leu) rs373095009
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.226+1del
NM_000431.4(MVK):c.227-20C>A
NM_000431.4(MVK):c.227-9G>A
NM_000431.4(MVK):c.247C>T (p.Pro83Ser)
NM_000431.4(MVK):c.250del (p.Thr84fs)
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.291G>T (p.Leu97Phe)
NM_000431.4(MVK):c.307G>A (p.Val103Ile)
NM_000431.4(MVK):c.316C>T (p.Arg106Cys)
NM_000431.4(MVK):c.337del (p.Leu113fs)
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416
NM_000431.4(MVK):c.340_344del (p.Tyr114fs) rs104895370
NM_000431.4(MVK):c.341A>G (p.Tyr114Cys)
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.372-8T>C
NM_000431.4(MVK):c.388G>A (p.Asp130Asn)
NM_000431.4(MVK):c.417dup (p.Gly140fs) rs104895373
NM_000431.4(MVK):c.439G>A (p.Ala147Thr) rs104895363
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.631+4G>A
NM_000431.4(MVK):c.662T>C (p.Ile221Thr)
NM_000431.4(MVK):c.665C>A (p.Ser222Ter)
NM_000431.4(MVK):c.677+12G>A rs539146613
NM_000431.4(MVK):c.677+1G>A
NM_000431.4(MVK):c.706A>G (p.Asn236Asp)
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) rs758952837
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.71A>C (p.His24Pro)
NM_000431.4(MVK):c.733G>T (p.Ala245Ser) rs2136245024
NM_000431.4(MVK):c.78+1G>A rs1884864809
NM_000431.4(MVK):c.78+1G>T
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.781G>A (p.Val261Met)
NM_000431.4(MVK):c.790del (p.Leu264fs)
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.843G>T (p.Glu281Asp) rs758317084
NM_000431.4(MVK):c.848G>C (p.Gly283Ala)
NM_000431.4(MVK):c.877G>T (p.Val293Leu)
NM_000431.4(MVK):c.885+2dup
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000431.4(MVK):c.973C>T (p.Arg325Cys)
NM_000431.4(MVK):c.976G>A (p.Gly326Arg) rs104895308
NM_001360.3(DHCR7):c.1001C>G (p.Thr334Ser)
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp) rs1409887214
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.1093G>T (p.Asp365Tyr)
NM_001360.3(DHCR7):c.1098G>A (p.Gly366=) rs2135939894
NM_001360.3(DHCR7):c.1139_1140delinsTA (p.Cys380Leu)
NM_001360.3(DHCR7):c.1155_1162del (p.Asp386fs)
NM_001360.3(DHCR7):c.1163A>C (p.Gln388Pro)
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr) rs544442568
NM_001360.3(DHCR7):c.1170C>A (p.His390Gln)
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.1218C>G (p.Phe406Leu) rs1949268068
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.1231_1234del (p.Gly410_Asp411insTer)
NM_001360.3(DHCR7):c.1270G>T (p.Gly424Cys)
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys) rs1565584679
NM_001360.3(DHCR7):c.1297A>G (p.Ile433Val) rs1244124212
NM_001360.3(DHCR7):c.12A>G (p.Lys4=) rs757934834
NM_001360.3(DHCR7):c.1324C>T (p.His442Tyr)
NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly)
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.1349G>T (p.Arg450Leu)
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
NM_001360.3(DHCR7):c.1375T>C (p.Trp459Arg)
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.3(DHCR7):c.156C>G (p.Phe52Leu)
NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter)
NM_001360.3(DHCR7):c.214G>A (p.Val72Met)
NM_001360.3(DHCR7):c.237T>C (p.His79=) rs1316013264
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
NM_001360.3(DHCR7):c.304T>C (p.Leu102=) rs1591113264
NM_001360.3(DHCR7):c.306G>C (p.Leu102Phe)
NM_001360.3(DHCR7):c.310G>T (p.Val104Phe)
NM_001360.3(DHCR7):c.314C>A (p.Thr105Asn)
NM_001360.3(DHCR7):c.322-9G>A rs2135945639
NM_001360.3(DHCR7):c.322G>T (p.Val108Leu)
NM_001360.3(DHCR7):c.322_330del
NM_001360.3(DHCR7):c.335C>T (p.Thr112Met)
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.369C>T (p.Pro123=) rs373452254
NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.38A>G (p.Lys13Arg)
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.439G>A (p.Gly147Ser)
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.523G>C (p.Asp175His)
NM_001360.3(DHCR7):c.587T>C (p.Met196Thr)
NM_001360.3(DHCR7):c.636del (p.Gly213fs)
NM_001360.3(DHCR7):c.650A>G (p.Tyr217Cys)
NM_001360.3(DHCR7):c.660G>C (p.Met220Ile) rs767377692
NM_001360.3(DHCR7):c.676A>G (p.Asn226Asp)
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met) rs267603172
NM_001360.3(DHCR7):c.700G>C (p.Asp234His)
NM_001360.3(DHCR7):c.70G>A (p.Ala24Thr) rs146867923
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)
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.760T>C (p.Ser254Pro)
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)
NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly)
NM_001360.3(DHCR7):c.779G>A (p.Arg260Gln)
NM_001360.3(DHCR7):c.803A>G (p.Asn268Ser)
NM_001360.3(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.3(DHCR7):c.809T>C (p.Met270Thr)
NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys) rs139787408
NM_001360.3(DHCR7):c.830A>G (p.Gln277Arg)
NM_001360.3(DHCR7):c.831+1G>T
NM_001360.3(DHCR7):c.831+4C>T
NM_001360.3(DHCR7):c.835A>G (p.Ile279Val)
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.903_906delinsATTT (p.His301Gln)
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) 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.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.928G>A (p.Asp310Asn)
NM_001360.3(DHCR7):c.963+1G>A
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.964-31_970delinsTGTCCACCCCGC
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.3(DHCR7):c.979T>C (p.Tyr327His)
NM_001360.3(DHCR7):c.98+1G>C
NM_006579.3(EBP):c.175G>A (p.Gly59Arg) rs782558322
NM_006579.3(EBP):c.185G>A (p.Arg62Gln)
NM_006579.3(EBP):c.193T>C (p.Ser65Pro)
NM_006579.3(EBP):c.250G>A (p.Val84Ile)
NM_006579.3(EBP):c.25C>T (p.His9Tyr)
NM_006579.3(EBP):c.27C>G (p.His9Gln)
NM_006579.3(EBP):c.283G>A (p.Ala95Thr) rs2147154752
NM_006579.3(EBP):c.347A>G (p.Asn116Ser)
NM_006579.3(EBP):c.50G>C (p.Arg17Thr)
NM_006579.3(EBP):c.604G>C (p.Val202Leu)
NM_006579.3(EBP):c.626A>C (p.Lys209Thr)
NM_014762.4(DHCR24):c.1024A>G (p.Ile342Val) rs2101555676
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) rs2125017628
NM_015922.3(NSDHL):c.1037C>G (p.Ala346Gly) rs782563536
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.1100G>A (p.Arg367His)
NM_015922.3(NSDHL):c.1118A>G (p.Lys373Arg) rs1933665377
NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys)
NM_015922.3(NSDHL):c.268-15dup rs782031217
NM_015922.3(NSDHL):c.273G>C (p.Leu91=)
NM_015922.3(NSDHL):c.529A>G (p.Ile177Val)
NM_015922.3(NSDHL):c.656C>T (p.Ala219Val)
NM_015922.3(NSDHL):c.691G>A (p.Gly231Arg)
NM_015922.3(NSDHL):c.74T>C (p.Val25Ala)
NM_015922.3(NSDHL):c.754G>C (p.Glu252Gln)
NM_015922.3(NSDHL):c.770A>G (p.Asp257Gly)
NM_015922.3(NSDHL):c.780G>A (p.Leu260=)
NM_015922.3(NSDHL):c.830C>G (p.Thr277Arg)
NM_015922.3(NSDHL):c.842G>T (p.Arg281Leu)
NM_015922.3(NSDHL):c.847C>G (p.Leu283Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.