ClinVar Miner

List of variants in gene HSD3B2 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_000198.4(HSD3B2):c.308-177T>C rs58154933 0.24648
NM_000198.4(HSD3B2):c.*276C>T rs1819698 0.24637
NM_000198.4(HSD3B2):c.308-297C>T rs59597916 0.21565
NM_000198.4(HSD3B2):c.*321C>G rs1361530 0.19080
NM_000198.4(HSD3B2):c.*96C>G rs9282703 0.02228
NM_000198.4(HSD3B2):c.*202A>G rs9282704 0.02074
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546 0.01873
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_000198.4(HSD3B2):c.143-215G>A rs114111684 0.01212
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207 0.00360
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954 0.00357
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00095
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913 0.00085
NM_000198.4(HSD3B2):c.280G>C (p.Glu94Gln) rs6211 0.00058
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791 0.00048
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=) rs114064941 0.00038
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=) rs138811555 0.00036
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000198.4(HSD3B2):c.147C>G (p.Leu49=) rs752417564 0.00023
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=) rs587675471 0.00019
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=) rs143038843 0.00015
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493 0.00011
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=) rs33932258 0.00009
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000198.4(HSD3B2):c.715C>T (p.Leu239=) rs771922495 0.00006
NM_000198.4(HSD3B2):c.143-7C>T rs200483303 0.00005
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) rs757033996 0.00005
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=) rs745608432 0.00005
NM_000198.4(HSD3B2):c.719G>A (p.Arg240Gln) rs373456025 0.00005
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter) rs80358217 0.00005
NM_000198.4(HSD3B2):c.243C>T (p.Thr81=) rs753645202 0.00004
NM_000198.4(HSD3B2):c.378G>A (p.Glu126=) rs1392682580 0.00004
NM_000198.4(HSD3B2):c.417C>T (p.Asn139=) rs369303483 0.00004
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000198.4(HSD3B2):c.1098C>T (p.Thr366=) rs757261352 0.00003
NM_000198.4(HSD3B2):c.225C>G (p.Val75=) rs773882717 0.00003
NM_000198.4(HSD3B2):c.246C>T (p.Ala82=) rs587717286 0.00003
NM_000198.4(HSD3B2):c.497T>G (p.Leu166Arg) rs1284571477 0.00003
NM_000198.4(HSD3B2):c.833G>A (p.Arg278His) rs766564863 0.00003
NM_000198.4(HSD3B2):c.855T>A (p.Leu285=) rs753224225 0.00003
NM_000198.4(HSD3B2):c.1032C>T (p.Ser344=) rs772348263 0.00002
NM_000198.4(HSD3B2):c.1047G>A (p.Lys349=) rs1490234089 0.00002
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404 0.00002
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=) rs996323669 0.00002
NM_000198.4(HSD3B2):c.301G>T (p.Val101Leu) rs752453060 0.00002
NM_000198.4(HSD3B2):c.525T>C (p.Asn175=) rs766170141 0.00002
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=) rs1040579140 0.00002
NM_000198.4(HSD3B2):c.669C>T (p.Val223=) rs750725811 0.00002
NM_000198.4(HSD3B2):c.867del (p.Met290fs) rs767167623 0.00002
NM_000198.4(HSD3B2):c.981C>T (p.Thr327=) rs149441011 0.00002
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000198.4(HSD3B2):c.1077T>A (p.Leu359=) rs1298077988 0.00001
NM_000198.4(HSD3B2):c.1080G>T (p.Val360=) rs752508551 0.00001
NM_000198.4(HSD3B2):c.143-19C>G rs764534651 0.00001
NM_000198.4(HSD3B2):c.143-20C>G rs760980799 0.00001
NM_000198.4(HSD3B2):c.207A>G (p.Lys69=) rs375679388 0.00001
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=) rs767147330 0.00001
NM_000198.4(HSD3B2):c.231C>T (p.Val77=) rs752329512 0.00001
NM_000198.4(HSD3B2):c.264T>C (p.Phe88=) rs1263886994 0.00001
NM_000198.4(HSD3B2):c.299A>G (p.Asn100Ser) rs1388517943 0.00001
NM_000198.4(HSD3B2):c.308-12C>G rs1651884486 0.00001
NM_000198.4(HSD3B2):c.308-14C>A rs750286630 0.00001
NM_000198.4(HSD3B2):c.308-16T>C rs1267781826 0.00001
NM_000198.4(HSD3B2):c.308-18C>T rs1445118268 0.00001
NM_000198.4(HSD3B2):c.308-9C>T rs375047799 0.00001
NM_000198.4(HSD3B2):c.318A>G (p.Leu106=) rs1349579965 0.00001
NM_000198.4(HSD3B2):c.351A>C (p.Pro117=) rs1387274464 0.00001
NM_000198.4(HSD3B2):c.384C>T (p.Ala128=) rs775037341 0.00001
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg) rs587628683 0.00001
NM_000198.4(HSD3B2):c.411C>A (p.Ile137=) rs374909270 0.00001
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219 0.00001
NM_000198.4(HSD3B2):c.436C>T (p.Leu146=) rs756389486 0.00001
NM_000198.4(HSD3B2):c.468C>T (p.Tyr156=) rs1023246046 0.00001
NM_000198.4(HSD3B2):c.480T>G (p.Leu160=) rs970211090 0.00001
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) rs886045197 0.00001
NM_000198.4(HSD3B2):c.534C>G (p.Thr178=) rs751443478 0.00001
NM_000198.4(HSD3B2):c.540C>T (p.Tyr180=) rs759383948 0.00001
NM_000198.4(HSD3B2):c.568T>C (p.Tyr190His) rs754126326 0.00001
NM_000198.4(HSD3B2):c.585A>G (p.Pro195=) rs1378986672 0.00001
NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln) rs765547422 0.00001
NM_000198.4(HSD3B2):c.672T>C (p.Tyr224=) rs116728039 0.00001
NM_000198.4(HSD3B2):c.682G>A (p.Val228Met) rs748851282 0.00001
NM_000198.4(HSD3B2):c.720G>A (p.Arg240=) rs200212806 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000198.4(HSD3B2):c.778C>T (p.Pro260Ser) rs745547471 0.00001
NM_000198.4(HSD3B2):c.798C>T (p.Asn266=) rs964948649 0.00001
NM_000198.4(HSD3B2):c.885C>T (p.Phe295=) rs778481893 0.00001
NM_000198.4(HSD3B2):c.903C>A (p.Ser301Arg) rs1243159832 0.00001
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=) rs587775183 0.00001
NM_000198.4(HSD3B2):c.972T>C (p.Ser324=) rs145137295 0.00001
NC_000001.10:g.(?_119964988)_(119988456_?)del
NC_000001.11:g.(?_119415410)_(119422630_?)del
NC_000001.11:g.(?_119419408)_(119419592_?)del
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter) rs905880501
NM_000198.4(HSD3B2):c.1003C>A (p.Arg335=) rs148200568
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.1014G>C (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.1014G>T (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.1020G>A (p.Lys340=) rs1570823822
NM_000198.4(HSD3B2):c.1028dup (p.Tyr343Ter) rs2526394528
NM_000198.4(HSD3B2):c.1034G>A (p.Trp345Ter) rs1570823863
NM_000198.4(HSD3B2):c.1041A>G (p.Glu347=) rs1010445855
NM_000198.4(HSD3B2):c.1050G>A (p.Gln350=) rs764620496
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.1056C>T (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.1077T>C (p.Leu359=) rs1298077988
NM_000198.4(HSD3B2):c.1082A>C (p.Asp361Ala) rs1392858876
NM_000198.4(HSD3B2):c.1086G>A (p.Arg362=) rs1353639351
NM_000198.4(HSD3B2):c.1086G>T (p.Arg362=) rs1353639351
NM_000198.4(HSD3B2):c.143-10G>C rs2101343465
NM_000198.4(HSD3B2):c.143-15C>A rs762380733
NM_000198.4(HSD3B2):c.143-17G>A rs754235844
NM_000198.4(HSD3B2):c.143-17G>C rs754235844
NM_000198.4(HSD3B2):c.143-19C>T
NM_000198.4(HSD3B2):c.143-1G>C rs1399398274
NM_000198.4(HSD3B2):c.143-4A>G rs2526382871
NM_000198.4(HSD3B2):c.150G>A (p.Gln50=) rs1329835742
NM_000198.4(HSD3B2):c.154_162delinsTCCTGTT (p.Arg52fs) rs2526382945
NM_000198.4(HSD3B2):c.159C>A (p.Thr53=) rs1570819751
NM_000198.4(HSD3B2):c.159C>G (p.Thr53=) rs1570819751
NM_000198.4(HSD3B2):c.168T>G (p.Thr56=) rs2526382989
NM_000198.4(HSD3B2):c.180del (p.Asp61fs) rs2526383039
NM_000198.4(HSD3B2):c.189G>A (p.Leu63=) rs2101343602
NM_000198.4(HSD3B2):c.213C>A (p.Ala71=) rs775633331
NM_000198.4(HSD3B2):c.213C>T (p.Ala71=) rs775633331
NM_000198.4(HSD3B2):c.216C>A (p.Cys72Ter) rs2101343665
NM_000198.4(HSD3B2):c.231C>G (p.Val77=)
NM_000198.4(HSD3B2):c.261C>A (p.Val87=) rs1651803406
NM_000198.4(HSD3B2):c.267T>A (p.Gly89=) rs2101343816
NM_000198.4(HSD3B2):c.276C>T (p.His92=) rs1651803836
NM_000198.4(HSD3B2):c.285C>T (p.Ser95=) rs2526383482
NM_000198.4(HSD3B2):c.294T>C (p.Asn98=) rs2526383511
NM_000198.4(HSD3B2):c.300T>C (p.Asn100=) rs1651804493
NM_000198.4(HSD3B2):c.307+13G>C rs1471425783
NM_000198.4(HSD3B2):c.307+16del rs2526383681
NM_000198.4(HSD3B2):c.307+17A>T rs2526383694
NM_000198.4(HSD3B2):c.307+1G>A rs776761493
NM_000198.4(HSD3B2):c.307+8A>G rs2101343944
NM_000198.4(HSD3B2):c.308-12C>T rs1651884486
NM_000198.4(HSD3B2):c.308-15G>A rs2526391107
NM_000198.4(HSD3B2):c.308-20A>G rs1324345816
NM_000198.4(HSD3B2):c.308-282AC[11] rs750057057
NM_000198.4(HSD3B2):c.308-5G>C rs2526391137
NM_000198.4(HSD3B2):c.308-6G>A
NM_000198.4(HSD3B2):c.308-8G>C rs371712928
NM_000198.4(HSD3B2):c.308G>T (p.Gly103Val) rs2526391151
NM_000198.4(HSD3B2):c.309T>C (p.Gly103=) rs2526391153
NM_000198.4(HSD3B2):c.312C>A (p.Thr104=) rs367646123
NM_000198.4(HSD3B2):c.312C>T (p.Thr104=) rs367646123
NM_000198.4(HSD3B2):c.318A>C (p.Leu106=) rs1349579965
NM_000198.4(HSD3B2):c.321G>A (p.Leu107=) rs2526391182
NM_000198.4(HSD3B2):c.322T>C (p.Leu108=) rs2101348940
NM_000198.4(HSD3B2):c.324G>A (p.Leu108=) rs2101348950
NM_000198.4(HSD3B2):c.340del (p.Ala114fs) rs765602803
NM_000198.4(HSD3B2):c.343_749del (p.Val116fs) rs2526391252
NM_000198.4(HSD3B2):c.374T>C (p.Ile125Thr) rs1419207546
NM_000198.4(HSD3B2):c.393C>T (p.Asn131=) rs2101349096
NM_000198.4(HSD3B2):c.396C>T (p.Ser132=) rs2526391436
NM_000198.4(HSD3B2):c.408C>T (p.Ile136=) rs2101349122
NM_000198.4(HSD3B2):c.411C>T (p.Ile137=) rs374909270
NM_000198.4(HSD3B2):c.414G>A (p.Gln138=) rs2101349142
NM_000198.4(HSD3B2):c.419G>A (p.Gly140Asp) rs142169766
NM_000198.4(HSD3B2):c.420C>T (p.Gly140=) rs766267758
NM_000198.4(HSD3B2):c.424G>T (p.Glu142Ter) rs80358219
NM_000198.4(HSD3B2):c.444C>T (p.Asn148=) rs1570822552
NM_000198.4(HSD3B2):c.447A>G (p.Thr149=) rs2526391595
NM_000198.4(HSD3B2):c.447dup (p.Trp150fs)
NM_000198.4(HSD3B2):c.453C>T (p.Pro151=) rs2526391606
NM_000198.4(HSD3B2):c.459A>G (p.Pro153=) rs1651890425
NM_000198.4(HSD3B2):c.462C>A (p.Tyr154Ter) rs1651890566
NM_000198.4(HSD3B2):c.462C>T (p.Tyr154=) rs1651890566
NM_000198.4(HSD3B2):c.477G>A (p.Lys159=) rs2101349331
NM_000198.4(HSD3B2):c.480T>C (p.Leu160=) rs970211090
NM_000198.4(HSD3B2):c.489G>A (p.Lys163=) rs2526391730
NM_000198.4(HSD3B2):c.495G>A (p.Val165=) rs1651891328
NM_000198.4(HSD3B2):c.495G>C (p.Val165=) rs1651891328
NM_000198.4(HSD3B2):c.496C>T (p.Leu166=) rs1373366351
NM_000198.4(HSD3B2):c.498G>A (p.Leu166=) rs2526391781
NM_000198.4(HSD3B2):c.503del (p.Ala168fs) rs2101349412
NM_000198.4(HSD3B2):c.507T>C (p.Asn169=) rs2101349426
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_000198.4(HSD3B2):c.516T>C (p.Asn172=) rs2101349453
NM_000198.4(HSD3B2):c.519A>G (p.Leu173=) rs2526391906
NM_000198.4(HSD3B2):c.534C>T (p.Thr178=) rs751443478
NM_000198.4(HSD3B2):c.537G>A (p.Leu179=) rs2526391957
NM_000198.4(HSD3B2):c.540C>A (p.Tyr180Ter) rs759383948
NM_000198.4(HSD3B2):c.546T>A (p.Cys182Ter) rs2526391994
NM_000198.4(HSD3B2):c.549G>C (p.Ala183=) rs33932258
NM_000198.4(HSD3B2):c.551del (p.Ala183_Leu184insTer) rs1570822744
NM_000198.4(HSD3B2):c.553A>C (p.Arg185=) rs756301579
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs) rs770815049
NM_000198.4(HSD3B2):c.570T>C (p.Tyr190=) rs374075427
NM_000198.4(HSD3B2):c.573G>A (p.Gly191=) rs2101349604
NM_000198.4(HSD3B2):c.573G>C (p.Gly191=) rs2101349604
NM_000198.4(HSD3B2):c.574dup (p.Glu192fs) rs2526392189
NM_000198.4(HSD3B2):c.597C>T (p.Ala199=) rs2526392278
NM_000198.4(HSD3B2):c.603A>T (p.Ile201=) rs2526392300
NM_000198.4(HSD3B2):c.606T>C (p.Asn202=) rs2526392314
NM_000198.4(HSD3B2):c.609G>A (p.Glu203=) rs375323828
NM_000198.4(HSD3B2):c.620del (p.Asn207fs) rs2526392374
NM_000198.4(HSD3B2):c.630C>T (p.Ile210=) rs770633737
NM_000198.4(HSD3B2):c.639T>C (p.Ser213=) rs2526392461
NM_000198.4(HSD3B2):c.642T>G (p.Val214=) rs1413119461
NM_000198.4(HSD3B2):c.652T>C (p.Ser218Pro) rs1651901764
NM_000198.4(HSD3B2):c.657A>G (p.Thr219=) rs764274511
NM_000198.4(HSD3B2):c.660C>G (p.Val220=) rs754040085
NM_000198.4(HSD3B2):c.666A>G (p.Pro222=) rs1407009062
NM_000198.4(HSD3B2):c.669C>A (p.Val223=) rs750725811
NM_000198.4(HSD3B2):c.687C>A (p.Ala229=) rs2101349963
NM_000198.4(HSD3B2):c.690G>A (p.Trp230Ter) rs2101349982
NM_000198.4(HSD3B2):c.692C>A (p.Ala231Asp) rs1391145898
NM_000198.4(HSD3B2):c.693C>G (p.Ala231=) rs2101350004
NM_000198.4(HSD3B2):c.693C>T (p.Ala231=) rs2101350004
NM_000198.4(HSD3B2):c.696C>T (p.His232=) rs1651905294
NM_000198.4(HSD3B2):c.705C>T (p.Ala235=) rs1355187380
NM_000198.4(HSD3B2):c.707del (p.Ala235_Leu236insTer) rs2101350040
NM_000198.4(HSD3B2):c.717G>T (p.Leu239=) rs2101350067
NM_000198.4(HSD3B2):c.718C>A (p.Arg240=) rs370603955
NM_000198.4(HSD3B2):c.735C>T (p.Ala245=) rs2526392861
NM_000198.4(HSD3B2):c.742_746delinsAACT (p.Val248fs) rs2526392908
NM_000198.4(HSD3B2):c.745C>A (p.Arg249=) rs80358217
NM_000198.4(HSD3B2):c.756C>T (p.Phe252=) rs1166544465
NM_000198.4(HSD3B2):c.757T>A (p.Tyr253Asn) rs1399005702
NM_000198.4(HSD3B2):c.759T>G (p.Tyr253Ter) rs1651909230
NM_000198.4(HSD3B2):c.783C>A (p.His261Gln) rs1651910559
NM_000198.4(HSD3B2):c.789C>T (p.Ser263=) rs771688849
NM_000198.4(HSD3B2):c.792_796del (p.Tyr264_Asn266delinsTer) rs2101350289
NM_000198.4(HSD3B2):c.795T>C (p.Asp265=) rs1272436857
NM_000198.4(HSD3B2):c.804T>C (p.Asn268=) rs1651911626
NM_000198.4(HSD3B2):c.807C>T (p.Tyr269=) rs1651911689
NM_000198.4(HSD3B2):c.810C>T (p.Ile270=) rs2526393351
NM_000198.4(HSD3B2):c.811C>T (p.Leu271=) rs2526393355
NM_000198.4(HSD3B2):c.813G>A (p.Leu271=) rs2526393362
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs) rs754609778
NM_000198.4(HSD3B2):c.822G>A (p.Glu274=) rs769933669
NM_000198.4(HSD3B2):c.825T>C (p.Phe275=) rs949012442
NM_000198.4(HSD3B2):c.829del (p.Leu277fs) rs2101350432
NM_000198.4(HSD3B2):c.830T>C (p.Leu277Pro)
NM_000198.4(HSD3B2):c.831C>T (p.Leu277=) rs1392890380
NM_000198.4(HSD3B2):c.834C>T (p.Arg278=) rs2526393459
NM_000198.4(HSD3B2):c.843C>A (p.Ser281=) rs2526393478
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer) rs2526393548
NM_000198.4(HSD3B2):c.852C>T (p.Ser284=) rs151258756
NM_000198.4(HSD3B2):c.858T>G (p.Pro286=) rs2526393600
NM_000198.4(HSD3B2):c.859T>C (p.Leu287=) rs2101350511
NM_000198.4(HSD3B2):c.864C>T (p.Thr288=)
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=) rs1292390178
NM_000198.4(HSD3B2):c.882C>A (p.Gly294=) rs1234986122
NM_000198.4(HSD3B2):c.886C>T (p.Leu296=) rs1485578805
NM_000198.4(HSD3B2):c.891G>A (p.Leu297=) rs779139349
NM_000198.4(HSD3B2):c.892del (p.Glu298fs) rs2101350566
NM_000198.4(HSD3B2):c.897A>T (p.Val299=) rs2526393833
NM_000198.4(HSD3B2):c.909A>G (p.Leu303=) rs757801056
NM_000198.4(HSD3B2):c.912C>T (p.Leu304=) rs1651915148
NM_000198.4(HSD3B2):c.918A>G (p.Pro306=) rs2101350660
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) rs781213951
NM_000198.4(HSD3B2):c.939C>T (p.Pro313=) rs2101350721
NM_000198.4(HSD3B2):c.954A>C (p.Thr318=) rs2101350777
NM_000198.4(HSD3B2):c.954A>G (p.Thr318=)
NM_000198.4(HSD3B2):c.965C>A (p.Ser322Ter) rs2101350819
NM_000198.4(HSD3B2):c.978C>T (p.Phe326=) rs2101350846
NM_000198.4(HSD3B2):c.993G>A (p.Lys331=) rs2101350897

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