ClinVar Miner

List of variants in gene DHCR24 studied for cholesterol metabolism disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_014762.4(DHCR24):c.*2555A>G rs657688 0.99941
NM_014762.4(DHCR24):c.1020+10A>G rs611057 0.99149
NM_014762.4(DHCR24):c.*1824T>G rs654561 0.98973
NM_014762.4(DHCR24):c.1026T>C (p.Ile342=) rs718265 0.66290
NM_014762.4(DHCR24):c.*1584T>C rs7374 0.40034
NM_014762.4(DHCR24):c.*2295G>C rs7373 0.39999
NM_014762.4(DHCR24):c.*221C>T rs1138030 0.19892
NM_014762.4(DHCR24):c.*324T>C rs74072036 0.08213
NM_014762.4(DHCR24):c.*1488C>T rs8990 0.07841
NM_014762.4(DHCR24):c.*788A>G rs9436941 0.03198
NM_014762.4(DHCR24):c.*462G>A rs648804 0.03193
NM_014762.4(DHCR24):c.*1965C>A rs11555500 0.02394
NM_014762.4(DHCR24):c.*1677T>C rs74496507 0.02139
NM_014762.4(DHCR24):c.180C>T (p.Leu60=) rs79857573 0.01223
NM_014762.4(DHCR24):c.*218C>A rs145558556 0.00942
NM_014762.4(DHCR24):c.360C>T (p.Asp120=) rs61733134 0.00798
NM_014762.4(DHCR24):c.1522G>A (p.Asp508Asn) rs11555496 0.00570
NM_014762.4(DHCR24):c.*1489G>A rs192013345 0.00558
NM_014762.4(DHCR24):c.*102C>T rs114267476 0.00523
NM_014762.4(DHCR24):c.*913C>T rs114343980 0.00451
NM_014762.4(DHCR24):c.*115C>T rs201545563 0.00378
NM_014762.4(DHCR24):c.*1424C>T rs113651566 0.00331
NM_014762.4(DHCR24):c.*2442G>T rs115017311 0.00323
NM_014762.4(DHCR24):c.81C>T (p.Leu27=) rs140995590 0.00294
NM_014762.4(DHCR24):c.*392C>T rs116490123 0.00293
NM_014762.4(DHCR24):c.1020+11G>A rs555618086 0.00258
NM_014762.4(DHCR24):c.-51G>T rs17552526 0.00243
NM_014762.4(DHCR24):c.*718G>A rs74072035 0.00232
NM_014762.4(DHCR24):c.*2084G>A rs74072034 0.00226
NM_014762.4(DHCR24):c.*914G>A rs140759061 0.00185
NM_014762.4(DHCR24):c.*2038G>A rs116411531 0.00162
NM_014762.4(DHCR24):c.*2200G>A rs558575804 0.00154
NM_014762.4(DHCR24):c.*2080C>T rs377656375 0.00148
NM_014762.4(DHCR24):c.*2554C>T rs144220338 0.00148
NM_014762.4(DHCR24):c.*1815A>T rs570922003 0.00147
NM_014762.4(DHCR24):c.616G>A (p.Glu206Lys) rs150688144 0.00092
NM_014762.4(DHCR24):c.*577C>T rs57714270 0.00065
NM_014762.4(DHCR24):c.*316T>G rs74072037 0.00063
NM_014762.4(DHCR24):c.731C>T (p.Pro244Leu) rs138667252 0.00061
NM_014762.4(DHCR24):c.*393G>A rs146650872 0.00057
NM_014762.4(DHCR24):c.*731T>C rs116289873 0.00056
NM_014762.4(DHCR24):c.*480C>T rs576670614 0.00054
NM_014762.4(DHCR24):c.463G>A (p.Val155Met) rs138933459 0.00051
NM_014762.4(DHCR24):c.639C>T (p.Ala213=) rs143779194 0.00044
NM_014762.4(DHCR24):c.-11G>A rs368314999 0.00041
NM_014762.4(DHCR24):c.-62G>A rs537895939 0.00039
NM_014762.4(DHCR24):c.*2394A>C rs548629632 0.00027
NM_014762.4(DHCR24):c.*653G>A rs372344030 0.00027
NM_014762.4(DHCR24):c.615C>T (p.Ser205=) rs147213053 0.00026
NM_014762.3(DHCR24):c.-77C>T rs548661780 0.00013
NM_014762.4(DHCR24):c.*944C>T rs79299252 0.00013
NM_014762.4(DHCR24):c.-42A>G rs371075692 0.00013
NM_014762.4(DHCR24):c.1329G>A (p.Pro443=) rs142984207 0.00013
NM_014762.4(DHCR24):c.*1881G>A rs757634950 0.00010
NM_014762.4(DHCR24):c.*27dup rs757256992 0.00010
NM_014762.4(DHCR24):c.*1264T>C rs553462271 0.00009
NM_014762.4(DHCR24):c.*1389T>C rs140078801 0.00009
NM_014762.4(DHCR24):c.*2119C>T rs886046414 0.00006
NM_014762.4(DHCR24):c.*42G>A rs200380515 0.00006
NM_014762.4(DHCR24):c.*1073C>G rs1044074687 0.00005
NM_014762.4(DHCR24):c.*1267G>A rs1175475634 0.00004
NM_014762.4(DHCR24):c.*278G>A rs772933580 0.00004
NM_014762.4(DHCR24):c.*676C>G rs762917924 0.00004
NM_014762.4(DHCR24):c.*984G>A rs776318516 0.00003
NM_014762.4(DHCR24):c.*172A>G rs886046420 0.00002
NM_014762.4(DHCR24):c.718C>T (p.Leu240=) rs191246223 0.00002
NM_014762.4(DHCR24):c.*125A>G rs914940982 0.00001
NM_014762.4(DHCR24):c.*1876T>C rs972764548 0.00001
NM_014762.4(DHCR24):c.*2468T>C rs1308283692 0.00001
NM_014762.4(DHCR24):c.*2503C>T rs886046412 0.00001
NM_014762.4(DHCR24):c.*2514A>G rs532882730 0.00001
NM_014762.4(DHCR24):c.1331G>A (p.Arg444His) rs747327620 0.00001
NM_014762.4(DHCR24):c.1431C>T (p.Asn477=) rs1453549055 0.00001
NM_014762.4(DHCR24):c.1438G>A (p.Glu480Lys) rs387906940 0.00001
NM_014762.4(DHCR24):c.1460G>A (p.Gly487Asp) rs776954529 0.00001
NM_014762.4(DHCR24):c.1504G>A (p.Ala502Thr) rs915474087 0.00001
NM_014762.4(DHCR24):c.281G>A (p.Arg94His) rs387906939 0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041 0.00001
NM_014762.4(DHCR24):c.712G>A (p.Val238Ile) rs886046421 0.00001
NM_014762.4(DHCR24):c.798C>T (p.Phe266=) rs142421002 0.00001
NM_014762.3(DHCR24):c.[881A>C,918G>C]
NM_014762.4(DHCR24):c.*1121A>G rs886046415
NM_014762.4(DHCR24):c.*1137G>C rs768244621
NM_014762.4(DHCR24):c.*1535G>A rs1646870155
NM_014762.4(DHCR24):c.*180_*181del rs886046419
NM_014762.4(DHCR24):c.*2081G>A rs373752257
NM_014762.4(DHCR24):c.*2245A>T rs886046413
NM_014762.4(DHCR24):c.*225T>C rs886046418
NM_014762.4(DHCR24):c.*426G>A rs1646876717
NM_014762.4(DHCR24):c.*434A>T rs886046417
NM_014762.4(DHCR24):c.*508T>C rs886046416
NM_014762.4(DHCR24):c.*597T>C rs1646875615
NM_014762.4(DHCR24):c.*600G>A rs184125615
NM_014762.4(DHCR24):c.-27G>C rs532827290
NM_014762.4(DHCR24):c.-27G>T rs532827290
NM_014762.4(DHCR24):c.1024A>G (p.Ile342Val) rs2101555676
NM_014762.4(DHCR24):c.1055G>A (p.Arg352His)
NM_014762.4(DHCR24):c.1155G>A (p.Gln385=) rs1646893615
NM_014762.4(DHCR24):c.1204C>T (p.Gln402Ter) rs2101555526
NM_014762.4(DHCR24):c.1228A>G (p.Ile410Val) rs1646890427
NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs) rs1570178668
NM_014762.4(DHCR24):c.1397+2T>A rs1314761103
NM_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser) rs28939092
NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter) rs563822834
NM_014762.4(DHCR24):c.1532G>A (p.Cys511Tyr) rs200415528
NM_014762.4(DHCR24):c.286G>C (p.Gly96Arg) rs2101578761
NM_014762.4(DHCR24):c.307C>T (p.Arg103Cys) rs387906938
NM_014762.4(DHCR24):c.388-10G>T rs774425757
NM_014762.4(DHCR24):c.500T>C (p.Leu167Ser) rs1557437639
NM_014762.4(DHCR24):c.726C>A (p.Phe242Leu) rs138043637
NM_014762.4(DHCR24):c.811C>A (p.Leu271Ile) rs886042137
NM_014762.4(DHCR24):c.958G>T (p.Glu320Ter) rs1646962392

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