ClinVar Miner

List of variants in gene WHRN reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.1699-128T>C rs2236388 0.87038
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_015404.4(WHRN):c.1626+199T>C rs2181928 0.56084
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_015404.4(WHRN):c.1416+151A>G rs4979385 0.44586
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159 0.40624
NM_015404.4(WHRN):c.2418+142A>G rs10739410 0.40617
NM_015404.4(WHRN):c.963+206G>A rs1535970 0.36724
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.618+1058G>A rs2296262 0.33070
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.2419-118G>A rs55833018 0.20991
NM_015404.4(WHRN):c.1417-224A>G rs2274161 0.20119
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.2237-190T>C rs766835 0.19491
NM_015404.4(WHRN):c.1698+292G>T rs10982201 0.19211
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.1167-264G>A rs10122624 0.06418
NM_015404.4(WHRN):c.963+314T>A rs73656118 0.03998
NM_015404.4(WHRN):c.963+315G>C rs73656117 0.03996
NM_015404.2(WHRN):c.-695A>T rs56085454 0.03180
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.1167-90G>A rs114621936 0.02033
NM_015404.4(WHRN):c.-295C>G rs7861589 0.01478
NM_015404.4(WHRN):c.1699-178G>A rs116320508 0.01438
NM_015404.4(WHRN):c.1203+20_1203+21dup rs147319712 0.01375
NM_015404.4(WHRN):c.963+280dup rs138194289 0.01122
NM_015404.4(WHRN):c.2541+134C>T rs41278663 0.01053
NM_015404.4(WHRN):c.1166+43A>T rs115632847 0.00813
NM_015404.4(WHRN):c.963+180A>G rs146916265 0.00713
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+191A>G rs150121300 0.00500
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_015404.4(WHRN):c.1166+23A>G rs56050936 0.00444
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_015404.4(WHRN):c.838-48A>C rs199902215 0.00376
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.-34C>T rs545201037 0.00165
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_015404.4(WHRN):c.1204-33G>A rs78371346 0.00130
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.1870C>T (p.Pro624Ser) rs140759343 0.00105
NM_015404.4(WHRN):c.234G>A (p.Leu78=) rs148785227 0.00099
NM_015404.4(WHRN):c.75C>T (p.Gly25=) rs771128098 0.00099
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
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.1533C>T (p.Pro511=) rs143271849 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.2510G>A (p.Arg837His) rs55749855 0.00053
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_015404.4(WHRN):c.837+190A>G rs116554365 0.00050
NM_015404.4(WHRN):c.2101G>C (p.Gly701Arg) rs111373159 0.00047
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu) rs149897775 0.00036
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.1608C>G (p.Thr536=) rs139337135 0.00024
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400 0.00022
NM_015404.4(WHRN):c.2183G>A (p.Arg728His) rs138767834 0.00021
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu) rs534523640 0.00014
NM_015404.4(WHRN):c.1049G>A (p.Arg350Gln) rs529362314 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) rs200073414 0.00011
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.2390A>G (p.Glu797Gly) rs375820423 0.00010
NM_015404.4(WHRN):c.1222C>A (p.Pro408Thr) rs368241259 0.00009
NM_015404.4(WHRN):c.1611C>T (p.Thr537=) rs201280818 0.00009
NM_015404.4(WHRN):c.1713C>T (p.Ser571=) rs753605610 0.00008
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.2093T>A (p.Val698Glu) rs201184915 0.00007
NM_015404.4(WHRN):c.1597G>A (p.Gly533Ser) rs752659496 0.00006
NM_015404.4(WHRN):c.695A>C (p.His232Pro) rs533374297 0.00006
NM_015404.4(WHRN):c.73G>T (p.Gly25Cys) rs774198237 0.00005
NM_015404.4(WHRN):c.1176C>T (p.Gly392=) rs200276167 0.00004
NM_015404.4(WHRN):c.156G>A (p.Glu52=) rs201025266 0.00004
NM_015404.4(WHRN):c.2246C>T (p.Thr749Met) rs767100303 0.00004
NM_015404.4(WHRN):c.2474C>G (p.Thr825Ser) rs200422759 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.1486C>T (p.Leu496=) rs758197889 0.00002
NM_015404.4(WHRN):c.1757C>T (p.Pro586Leu) rs771542666 0.00002
NM_015404.4(WHRN):c.2299G>T (p.Asp767Tyr) rs200583397 0.00002
NM_015404.4(WHRN):c.2655C>T (p.Ala885=) rs775402871 0.00002
NM_015404.4(WHRN):c.314T>C (p.Leu105Pro) rs751083422 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.1378G>A (p.Val460Ile) rs373389359 0.00001
NM_015404.4(WHRN):c.1591A>C (p.Ser531Arg) rs1217731688 0.00001
NM_015404.4(WHRN):c.1810A>G (p.Arg604Gly) rs373975842 0.00001
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920 0.00001
NM_015404.4(WHRN):c.2189A>G (p.Asp730Gly) rs772190770 0.00001
NM_015404.4(WHRN):c.2219C>T (p.Ala740Val) rs976736112 0.00001
NM_015404.4(WHRN):c.2247G>A (p.Thr749=) rs143997286 0.00001
NM_015404.4(WHRN):c.2453G>A (p.Arg818His) rs762248099 0.00001
NM_015404.4(WHRN):c.2484C>T (p.Ile828=) rs777780045 0.00001
NM_015404.4(WHRN):c.2611A>G (p.Thr871Ala) rs779001003 0.00001
NM_015404.4(WHRN):c.559C>T (p.Gln187Ter) rs1230382008 0.00001
NC_000009.12:g.114505662G>T rs10817631
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_015404.4(WHRN):c.1167-265C>A rs2274162
NM_015404.4(WHRN):c.1203+2T>C
NM_015404.4(WHRN):c.1577G>C (p.Gly526Ala)
NM_015404.4(WHRN):c.1619C>T (p.Ser540Leu)
NM_015404.4(WHRN):c.1626+287del rs370330247
NM_015404.4(WHRN):c.1627-10C>A
NM_015404.4(WHRN):c.1698+253_1698+254insTGACTT rs56699228
NM_015404.4(WHRN):c.171G>A (p.Gln57=) rs578204125
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu) rs150146590
NM_015404.4(WHRN):c.1930G>C (p.Asp644His) rs201707482
NM_015404.4(WHRN):c.2236+84G>T rs10982200
NM_015404.4(WHRN):c.2309A>T (p.Glu770Val) rs1168947739
NM_015404.4(WHRN):c.2351C>G (p.Ser784Cys)
NM_015404.4(WHRN):c.2492A>G (p.Glu831Gly) rs781538079
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.2701A>C (p.Thr901Pro)
NM_015404.4(WHRN):c.540A>G (p.Glu180=) rs2133473118
NM_015404.4(WHRN):c.616A>G (p.Lys206Glu)
NM_015404.4(WHRN):c.618+125T>A rs76016219
NM_015404.4(WHRN):c.618+125_618+126del rs5900094
NM_015404.4(WHRN):c.618+126del rs5900094
NM_015404.4(WHRN):c.619-54C>T rs56168690
NM_015404.4(WHRN):c.619-66G>T rs7874870
NM_015404.4(WHRN):c.683A>G (p.Tyr228Cys)
NM_015404.4(WHRN):c.696C>T (p.His232=) rs200605297
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551

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