ClinVar Miner

List of variants in gene HSD3B2 studied for congenital adrenal hyperplasia

Included ClinVar conditions (10):
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000198.4(HSD3B2):c.*276C>T rs1819698 0.24637
NM_000198.4(HSD3B2):c.*321C>G rs1361530 0.19080
NM_000198.4(HSD3B2):c.*202A>G rs9282704 0.02229
NM_000198.4(HSD3B2):c.*96C>G rs9282703 0.02228
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546 0.01994
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207 0.00387
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954 0.00385
NM_000198.4(HSD3B2):c.*397T>A rs753468192 0.00103
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913 0.00087
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 0.00041
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.631C>T (p.Leu211=) rs143038843 0.00016
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.681C>T (p.Asn227=) rs587675471 0.00011
NM_000198.4(HSD3B2):c.*46C>T rs371081728 0.00009
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=) rs33932258 0.00008
NM_000198.4(HSD3B2):c.628A>G (p.Ile210Val) rs587741317 0.00007
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000198.4(HSD3B2):c.*177C>T rs886045199 0.00006
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=) rs745608432 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.246C>T (p.Ala82=) rs587717286 0.00005
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter) rs80358217 0.00005
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000198.4(HSD3B2):c.*121C>A rs886045198 0.00003
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys) rs80358218 0.00003
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.625G>A (p.Gly209Arg) rs587669956 0.00002
NM_000198.4(HSD3B2):c.867del (p.Met290fs) rs767167623 0.00002
NM_000198.4(HSD3B2):c.*411T>C rs1651940686 0.00001
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr) rs147383167 0.00001
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094 0.00001
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=) rs767147330 0.00001
NM_000198.4(HSD3B2):c.308-14C>A rs750286630 0.00001
NM_000198.4(HSD3B2):c.308-9C>T rs375047799 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.510G>C (p.Gly170=) rs886045197 0.00001
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala) rs929360018 0.00001
NM_000198.4(HSD3B2):c.672T>C (p.Tyr224=) rs116728039 0.00001
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln) rs751984843 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=) rs587775183 0.00001
NM_000198.4(HSD3B2):c.*9T>A rs1651924447
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter) rs905880501
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.1019del (p.Lys340fs)
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu) rs121964897
NM_000198.4(HSD3B2):c.1042G>A (p.Ala348Thr)
NM_000198.4(HSD3B2):c.1048C>T (p.Gln350Ter)
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys) rs1651920667
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.1057G>A (p.Val353Met)
NM_000198.4(HSD3B2):c.1088A>G (p.His363Arg)
NM_000198.4(HSD3B2):c.1117T>C (p.Ter373Arg)
NM_000198.4(HSD3B2):c.143-13T>G
NM_000198.4(HSD3B2):c.223G>C (p.Val75Leu)
NM_000198.4(HSD3B2):c.232G>A (p.Val78Ile)
NM_000198.4(HSD3B2):c.240C>A (p.His80Gln)
NM_000198.4(HSD3B2):c.266G>T (p.Gly89Val)
NM_000198.4(HSD3B2):c.295G>T (p.Val99Phe)
NM_000198.4(HSD3B2):c.308-1G>C
NM_000198.4(HSD3B2):c.320T>A (p.Leu107Gln)
NM_000198.4(HSD3B2):c.328G>A (p.Ala110Thr)
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp) rs886045196
NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly)
NM_000198.4(HSD3B2):c.360C>T (p.Ile120=)
NM_000198.4(HSD3B2):c.373A>G (p.Ile125Val)
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
NM_000198.4(HSD3B2):c.406del (p.Ile136fs)
NM_000198.4(HSD3B2):c.418G>A (p.Gly140Ser)
NM_000198.4(HSD3B2):c.424G>T (p.Glu142Ter)
NM_000198.4(HSD3B2):c.434C>T (p.Pro145Leu)
NM_000198.4(HSD3B2):c.454A>G (p.Thr152Ala)
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000198.4(HSD3B2):c.466T>C (p.Tyr156His)
NM_000198.4(HSD3B2):c.471C>G (p.Ser157Arg)
NM_000198.4(HSD3B2):c.491C>T (p.Ala164Val)
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs) rs770815049
NM_000198.4(HSD3B2):c.563A>G (p.Tyr188Cys)
NM_000198.4(HSD3B2):c.571G>C (p.Gly191Arg)
NM_000198.4(HSD3B2):c.574G>T (p.Glu192Ter)
NM_000198.4(HSD3B2):c.607G>T (p.Glu203Ter)
NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=) rs1040579140
NM_000198.4(HSD3B2):c.638G>C (p.Ser213Thr)
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) rs80358220
NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln)
NM_000198.4(HSD3B2):c.671A>G (p.Tyr224Cys)
NM_000198.4(HSD3B2):c.674T>C (p.Val225Ala)
NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)
NM_000198.4(HSD3B2):c.701T>C (p.Leu234Pro)
NM_000198.4(HSD3B2):c.718C>T (p.Arg240Trp)
NM_000198.4(HSD3B2):c.719G>A (p.Arg240Gln)
NM_000198.4(HSD3B2):c.722A>G (p.Asp241Gly)
NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)
NM_000198.4(HSD3B2):c.749G>T (p.Gly250Val)
NM_000198.4(HSD3B2):c.757T>A (p.Tyr253Asn)
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849
NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys)
NM_000198.4(HSD3B2):c.792_796del (p.Tyr264_Asn266delinsTer) rs2101350289
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs) rs754609778
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=) rs1292390178
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter) rs756663759
NM_000198.4(HSD3B2):c.898G>A (p.Val300Met)
NM_000198.4(HSD3B2):c.903C>A (p.Ser301Arg)
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) rs781213951
NM_000198.4(HSD3B2):c.934C>T (p.Pro312Ser)
NM_000198.4(HSD3B2):c.947G>A (p.Arg316His)
NM_000198.4(HSD3B2):c.[742_743delinsAA;745C>T]

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