ClinVar Miner

List of variants in gene WHRN studied for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 159
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.2256= (p.Gln752=) rs6478078 0.99456
NM_015404.4(WHRN):c.1091= (p.His364=) rs10817610 0.98173
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159 0.40624
NM_015404.4(WHRN):c.-510G>A rs10759714 0.36192
NM_015404.4(WHRN):c.-391C>A rs4527950 0.35348
NM_015404.4(WHRN):c.-91C>T rs2297814 0.33038
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_015404.4(WHRN):c.964-21A>G rs2274163 0.31128
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_015404.4(WHRN):c.1416+22A>T rs4979386 0.19539
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246 0.12235
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03118
NM_015404.4(WHRN):c.-257C>G rs73555447 0.02919
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_015404.4(WHRN):c.*438T>G rs114641960 0.02166
NM_015404.4(WHRN):c.-295C>G rs7861589 0.01478
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467 0.00555
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618 0.00545
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952 0.00177
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600 0.00120
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_015404.4(WHRN):c.-583C>T rs755158483 0.00090
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_015404.4(WHRN):c.-305C>T rs537786676 0.00079
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714 0.00062
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_015404.4(WHRN):c.-483G>A rs886063374 0.00039
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) rs201105262 0.00039
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_015404.4(WHRN):c.-595G>A rs1030140507 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400 0.00022
NM_015404.4(WHRN):c.*187A>G rs779279060 0.00019
NM_015404.4(WHRN):c.*188A>T rs549537695 0.00019
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_015404.4(WHRN):c.-570C>G rs886073834 0.00015
NM_015404.4(WHRN):c.-581C>T rs886063377 0.00015
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr) rs202161016 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_015404.4(WHRN):c.2571G>T (p.Gln857His) rs776712642 0.00010
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala) rs781583583 0.00009
NM_015404.4(WHRN):c.-505C>T rs987306942 0.00007
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723 0.00007
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_015404.4(WHRN):c.*339C>A rs774074739 0.00006
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn) rs369521178 0.00006
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) rs45530335 0.00006
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys) rs750834235 0.00006
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu) rs200354989 0.00006
NM_015404.4(WHRN):c.695A>C (p.His232Pro) rs533374297 0.00006
NM_015404.4(WHRN):c.*583C>T rs567156879 0.00005
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) rs141168514 0.00005
NM_015404.4(WHRN):c.1555A>G (p.Met519Val) rs768008029 0.00004
NM_015404.4(WHRN):c.1626+8T>G rs547616329 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079 0.00004
NM_015404.4(WHRN):c.*149A>G rs563858014 0.00003
NM_015404.4(WHRN):c.-23C>G rs770413185 0.00003
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) rs763451514 0.00003
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315 0.00003
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr) rs143464875 0.00003
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015404.4(WHRN):c.762C>T (p.His254=) rs201171374 0.00003
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) rs758129253 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.2234G>A (p.Arg745His) rs555619169 0.00002
NM_015404.4(WHRN):c.324A>G (p.Gln108=) rs763014940 0.00002
NM_015404.4(WHRN):c.549G>A (p.Arg183=) rs147477922 0.00002
NM_015404.4(WHRN):c.*37C>G rs549195233 0.00001
NM_015404.4(WHRN):c.*51C>T rs529176890 0.00001
NM_015404.4(WHRN):c.*554C>T rs886063367 0.00001
NM_015404.4(WHRN):c.*613A>G rs1042938459 0.00001
NM_015404.4(WHRN):c.-92C>T rs1289815111 0.00001
NM_015404.4(WHRN):c.1097G>A (p.Arg366His) rs763238664 0.00001
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu) rs759109990 0.00001
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) rs886063372 0.00001
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) rs373389359 0.00001
NM_015404.4(WHRN):c.1683C>T (p.Leu561=) rs886063371 0.00001
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr) rs750597763 0.00001
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920 0.00001
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met) rs751846994 0.00001
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) rs886063370 0.00001
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) rs545286422 0.00001
NM_015404.4(WHRN):c.2419-5C>T rs767910166 0.00001
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844 0.00001
NM_015404.4(WHRN):c.2453G>A (p.Arg818His) rs762248099 0.00001
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met) rs140344596 0.00001
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln) rs138731082 0.00001
NM_015404.4(WHRN):c.684C>T (p.Tyr228=) rs377363590 0.00001
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096 0.00001
NM_015404.4(WHRN):c.837+5G>C rs201863779 0.00001
NM_015404.4(WHRN):c.*126C>A rs1834758281
NM_015404.4(WHRN):c.*156G>A rs567661962
NM_015404.4(WHRN):c.*175C>T rs1834755674
NM_015404.4(WHRN):c.*29T>G rs760640463
NM_015404.4(WHRN):c.*325dup rs886063369
NM_015404.4(WHRN):c.*357C>G rs886063368
NM_015404.4(WHRN):c.*495T>C rs954067626
NM_015404.4(WHRN):c.*633T>C rs886063366
NM_015404.4(WHRN):c.-269C>A rs551952938
NM_015404.4(WHRN):c.-310G>T rs1844288269
NM_015404.4(WHRN):c.-314C>T rs57258861
NM_015404.4(WHRN):c.-499G>A rs886063375
NM_015404.4(WHRN):c.-517C>T rs886063376
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_015404.4(WHRN):c.1014A>G (p.Leu338=) rs886063373
NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn) rs937343366
NM_015404.4(WHRN):c.1389G>T (p.Leu463=) rs748769354
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_015404.4(WHRN):c.1627-7T>G rs1835163569
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) rs775066754
NM_015404.4(WHRN):c.1817del (p.Asp606fs)
NM_015404.4(WHRN):c.1929G>A (p.Gln643=) rs1835054839
NM_015404.4(WHRN):c.2130C>A (p.Gly710=) rs781674400
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys) rs376805417
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) rs376805417
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) rs751455932
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter) rs137852839
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) rs1564113368
NM_015404.4(WHRN):c.2423del (p.Gly808fs) rs869320674
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln) rs1301232723
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) rs776268964
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) rs727505255
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) rs137852840
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)
NM_015404.4(WHRN):c.375del (p.Ala126fs) rs751838091
NM_015404.4(WHRN):c.680G>T (p.Gly227Val) rs908185393
NM_015404.4(WHRN):c.680dup (p.Tyr228fs) rs1306987034
NM_015404.4(WHRN):c.737del (p.Pro246fs) rs1589229634
NM_015404.4(WHRN):c.837+1G>A rs2133130286
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834

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.