ClinVar Miner

List of variants in gene WDR62 studied for Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

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Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe) rs1008328 0.75234
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser) rs2285745 0.68524
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu) rs2074435 0.67813
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_001083961.2(WDR62):c.186C>T (p.Leu62=) rs11538454 0.14792
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=) rs61494900 0.14221
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=) rs17851502 0.14024
NM_001083961.2(WDR62):c.1643-10C>T rs4806263 0.14010
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=) rs45567532 0.13368
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664 0.04216
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503 0.03516
NM_001083961.2(WDR62):c.562-13C>T rs78138007 0.03315
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg) rs61741470 0.03313
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=) rs45470992 0.03038
NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His) rs61743589 0.02230
NM_001083961.2(WDR62):c.2312A>G (p.Lys771Arg) rs61747277 0.01994
NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr) rs61744321 0.01766
NM_001083961.2(WDR62):c.2521-13G>C rs79646208 0.01151
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_001083961.2(WDR62):c.*5G>A rs61740165 0.00745
NM_001083961.2(WDR62):c.1959-20A>G rs150830386 0.00582
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001083961.2(WDR62):c.269+19C>T rs140267028 0.00221
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) rs148415080 0.00176
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001083961.2(WDR62):c.253G>A (p.Val85Met) rs146274964 0.00161
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00148
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=) rs148667984 0.00138
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=) rs187029707 0.00102
NM_001083961.2(WDR62):c.2211-4G>A rs202109439 0.00096
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=) rs117887683 0.00078
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu) rs139460397 0.00077
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=) rs144697999 0.00073
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=) rs139946168 0.00066
NM_001083961.2(WDR62):c.744C>T (p.Gly248=) rs146898747 0.00045
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr) rs144120866 0.00040
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp) rs200283315 0.00038
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr) rs148615988 0.00031
NM_001083961.2(WDR62):c.546C>T (p.Asn182=) rs199931318 0.00026
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp) rs746156911 0.00021
NM_001083961.2(WDR62):c.4312T>A (p.Leu1438Met) rs138814793 0.00019
NM_001083961.2(WDR62):c.1233+7C>G rs537771936 0.00017
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp) rs201053854 0.00016
NM_001083961.2(WDR62):c.3724G>A (p.Val1242Met) rs143493857 0.00016
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu) rs202014178 0.00014
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser) rs761479779 0.00013
NM_001083961.2(WDR62):c.391-10C>T rs201568145 0.00013
NM_001083961.2(WDR62):c.328G>A (p.Ala110Thr) rs200316266 0.00011
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001083961.2(WDR62):c.4546G>A (p.Val1516Met) rs369708392 0.00009
NM_001083961.2(WDR62):c.*45G>C rs769679657 0.00008
NM_001083961.2(WDR62):c.1696G>A (p.Val566Met) rs145392484 0.00008
NM_001083961.2(WDR62):c.2814T>C (p.Ser938=) rs759280288 0.00008
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001083961.2(WDR62):c.2605G>A (p.Gly869Ser) rs377052586 0.00006
NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val) rs749528768 0.00006
NM_001083961.2(WDR62):c.3063G>A (p.Thr1021=) rs750350692 0.00006
NM_001083961.2(WDR62):c.3515-7G>A rs368668756 0.00006
NM_001083961.2(WDR62):c.1640C>T (p.Thr547Met) rs756313871 0.00005
NM_001083961.2(WDR62):c.2007C>T (p.Ser669=) rs765652491 0.00005
NM_001083961.2(WDR62):c.3302C>T (p.Thr1101Met) rs147484315 0.00005
NM_001083961.2(WDR62):c.*57G>A rs745633558 0.00004
NM_001083961.2(WDR62):c.1064C>T (p.Ala355Val) rs764859949 0.00004
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=) rs79238222 0.00004
NM_001083961.2(WDR62):c.2227C>T (p.His743Tyr) rs142313818 0.00004
NM_001083961.2(WDR62):c.241G>A (p.Gly81Ser) rs201714619 0.00004
NM_001083961.2(WDR62):c.2490C>T (p.Asn830=) rs587784547 0.00004
NM_001083961.2(WDR62):c.2950A>G (p.Lys984Glu) rs750017267 0.00004
NM_001083961.2(WDR62):c.3733C>A (p.Leu1245Met) rs763947043 0.00004
NM_001083961.2(WDR62):c.3857G>A (p.Arg1286His) rs371385084 0.00004
NM_001083961.2(WDR62):c.4144C>T (p.Pro1382Ser) rs772768990 0.00004
NM_001083961.2(WDR62):c.4329G>A (p.Gln1443=) rs771131709 0.00004
NM_001083961.2(WDR62):c.589G>A (p.Val197Ile) rs535488873 0.00004
NM_001083961.2(WDR62):c.791G>A (p.Arg264Gln) rs765050364 0.00004
NM_001083961.2(WDR62):c.2566C>T (p.Arg856Cys) rs370558837 0.00003
NM_001083961.2(WDR62):c.2972-15G>A rs1014003547 0.00003
NM_001083961.2(WDR62):c.3335+3A>G rs587784554 0.00003
NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr) rs144347678 0.00003
NM_001083961.2(WDR62):c.3536C>T (p.Ala1179Val) rs372642550 0.00003
NM_001083961.2(WDR62):c.3537G>A (p.Ala1179=) rs201341594 0.00003
NM_001083961.2(WDR62):c.3573C>T (p.Asp1191=) rs1054040 0.00003
NM_001083961.2(WDR62):c.3611G>T (p.Gly1204Val) rs587784559 0.00003
NM_001083961.2(WDR62):c.3810C>T (p.Thr1270=) rs765881142 0.00003
NM_001083961.2(WDR62):c.4296C>T (p.Leu1432=) rs765001215 0.00003
NM_001083961.2(WDR62):c.1169A>G (p.Asp390Gly) rs781151383 0.00002
NM_001083961.2(WDR62):c.1479C>T (p.Ala493=) rs150656878 0.00002
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666 0.00002
NM_001083961.2(WDR62):c.1534C>G (p.Arg512Gly) rs201993064 0.00002
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter) rs769688376 0.00002
NM_001083961.2(WDR62):c.2515C>T (p.Arg839Trp) rs377731205 0.00002
NM_001083961.2(WDR62):c.2896G>A (p.Gly966Arg) rs587784550 0.00002
NM_001083961.2(WDR62):c.3066G>A (p.Ser1022=) rs3746269 0.00002
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001083961.2(WDR62):c.3698C>G (p.Ser1233Cys) rs587784560 0.00002
NM_001083961.2(WDR62):c.3878C>A (p.Ala1293Asp) rs868263026 0.00002
NM_001083961.2(WDR62):c.4187G>A (p.Arg1396His) rs372272053 0.00002
NM_001083961.2(WDR62):c.4464G>A (p.Pro1488=) rs754718956 0.00002
NM_001083961.2(WDR62):c.984C>T (p.Leu328=) rs200298843 0.00002
NM_001083961.2(WDR62):c.1194G>A (p.Trp398Ter) rs769137869 0.00001
NM_001083961.2(WDR62):c.1238A>T (p.Tyr413Phe) rs1265156638 0.00001
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His) rs387907082 0.00001
NM_001083961.2(WDR62):c.1486C>T (p.Arg496Trp) rs587784544 0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001083961.2(WDR62):c.1642+9G>A rs112789274 0.00001
NM_001083961.2(WDR62):c.1709A>G (p.Tyr570Cys) rs761202940 0.00001
NM_001083961.2(WDR62):c.1837-12C>T rs773051177 0.00001
NM_001083961.2(WDR62):c.2000A>G (p.Lys667Arg) rs765613365 0.00001
NM_001083961.2(WDR62):c.2237C>T (p.Pro746Leu) rs140864528 0.00001
NM_001083961.2(WDR62):c.2334-13T>C rs766014038 0.00001
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser) rs587784548 0.00001
NM_001083961.2(WDR62):c.3161C>G (p.Pro1054Arg) rs777428608 0.00001
NM_001083961.2(WDR62):c.3336-5C>G rs587784555 0.00001
NM_001083961.2(WDR62):c.3356C>T (p.Pro1119Leu) rs886054360 0.00001
NM_001083961.2(WDR62):c.3559G>A (p.Val1187Met) rs587784557 0.00001
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr) rs587784558 0.00001
NM_001083961.2(WDR62):c.363del (p.Asp122fs) rs587776901 0.00001
NM_001083961.2(WDR62):c.4033C>T (p.Arg1345Cys) rs201363122 0.00001
NM_001083961.2(WDR62):c.4266C>T (p.His1422=) rs886054362 0.00001
NM_001083961.2(WDR62):c.4339G>A (p.Gly1447Arg) rs769860430 0.00001
NM_001083961.2(WDR62):c.481G>A (p.Val161Met) rs1036466930 0.00001
NM_001083961.2(WDR62):c.699+16T>C rs201300686 0.00001
NM_001083961.2(WDR62):c.700-17G>A rs767694830 0.00001
NM_001083961.2(WDR62):c.892T>C (p.Ser298Pro) rs762909874 0.00001
NM_001083961.2(WDR62):c.*45G>A rs769679657
NM_001083961.2(WDR62):c.1024G>A (p.Ala342Thr)
NM_001083961.2(WDR62):c.1129G>T (p.Val377Leu) rs761204875
NM_001083961.2(WDR62):c.1138G>A (p.Asp380Asn) rs755050401
NM_001083961.2(WDR62):c.1175_1200dup (p.Leu401fs)
NM_001083961.2(WDR62):c.1183G>A (p.Gly395Ser) rs1971408601
NM_001083961.2(WDR62):c.118A>G (p.Ile40Val)
NM_001083961.2(WDR62):c.1233+11C>A rs116050630
NM_001083961.2(WDR62):c.1233+13C>T rs76130844
NM_001083961.2(WDR62):c.1233+15C>A rs554017479
NM_001083961.2(WDR62):c.1234-1G>A rs2145706114
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys) rs587784542
NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val) rs75230537
NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) rs267607177
NM_001083961.2(WDR62):c.1487G>A (p.Arg496Gln)
NM_001083961.2(WDR62):c.1489G>A (p.Val497Ile) rs886054358
NM_001083961.2(WDR62):c.1495C>T (p.Gln499Ter)
NM_001083961.2(WDR62):c.1526C>T (p.Ser509Leu) rs1026664479
NM_001083961.2(WDR62):c.1535G>T (p.Arg512Leu) rs375417358
NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter) rs147875659
NM_001083961.2(WDR62):c.1589dup (p.Glu531fs)
NM_001083961.2(WDR62):c.1598A>G (p.His533Arg) rs1972100904
NM_001083961.2(WDR62):c.159G>A (p.Glu53=) rs1970284041
NM_001083961.2(WDR62):c.1605dup (p.Glu536Ter)
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.1669C>T (p.Arg557Trp)
NM_001083961.2(WDR62):c.1681A>T (p.Ile561Phe) rs587784545
NM_001083961.2(WDR62):c.1684C>G (p.His562Asp) rs1379578836
NM_001083961.2(WDR62):c.1750A>C (p.Thr584Pro) rs76456648
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs) rs1213710245
NM_001083961.2(WDR62):c.1836+15C>A rs1972432279
NM_001083961.2(WDR62):c.1892T>C (p.Leu631Ser)
NM_001083961.2(WDR62):c.1906A>C (p.Ile636Leu)
NM_001083961.2(WDR62):c.193G>A (p.Val65Met) rs387907084
NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del) rs764610550
NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs) rs2145516989
NM_001083961.2(WDR62):c.2035-2A>G
NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs) rs587784546
NM_001083961.2(WDR62):c.2086del (p.Ser696fs) rs863223322
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.2260C>T (p.Gln754Ter) rs2145795692
NM_001083961.2(WDR62):c.2284C>T (p.Arg762Trp)
NM_001083961.2(WDR62):c.2334-29C>T rs2301737
NM_001083961.2(WDR62):c.2418T>G (p.Cys806Trp)
NM_001083961.2(WDR62):c.242G>A (p.Gly81Asp)
NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)
NM_001083961.2(WDR62):c.250dup (p.His84fs) rs1234259290
NM_001083961.2(WDR62):c.2575C>T (p.Gln859Ter) rs1006898944
NM_001083961.2(WDR62):c.2584G>T (p.Gly862Cys) rs587784548
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001083961.2(WDR62):c.2624C>T (p.Thr875Ile) rs749258743
NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter) rs587784549
NM_001083961.2(WDR62):c.270-15_287del rs2145528028
NM_001083961.2(WDR62):c.2728C>A (p.Leu910Met) rs1279068945
NM_001083961.2(WDR62):c.272G>A (p.Cys91Tyr) rs1970561947
NM_001083961.2(WDR62):c.2739+17C>A rs144527765
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs) rs764201220
NM_001083961.2(WDR62):c.2782C>T (p.Leu928=) rs12610991
NM_001083961.2(WDR62):c.2787C>T (p.Pro929=) rs886054359
NM_001083961.2(WDR62):c.2788C>T (p.Gln930Ter) rs1599841026
NM_001083961.2(WDR62):c.2945G>A (p.Ser982Asn) rs11540047
NM_001083961.2(WDR62):c.2984C>G (p.Ser995Ter)
NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs) rs1555723585
NM_001083961.2(WDR62):c.3073del (p.His1025fs) rs1372708280
NM_001083961.2(WDR62):c.3083-2A>T
NM_001083961.2(WDR62):c.3121G>A (p.Glu1041Lys)
NM_001083961.2(WDR62):c.3220+4G>C rs199678831
NM_001083961.2(WDR62):c.3221-13G>T rs753800840
NM_001083961.2(WDR62):c.3221-15G>A rs766253275
NM_001083961.2(WDR62):c.32G>C (p.Arg11Pro) rs587784552
NM_001083961.2(WDR62):c.332+1G>A rs587784553
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)
NM_001083961.2(WDR62):c.332G>C (p.Arg111Thr) rs1970564827
NM_001083961.2(WDR62):c.3336-6C>G
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs) rs797046109
NM_001083961.2(WDR62):c.3360G>A (p.Arg1120=) rs886054361
NM_001083961.2(WDR62):c.3383_3401del (p.Ser1128fs) rs775357840
NM_001083961.2(WDR62):c.3406C>G (p.Arg1136Gly) rs587784556
NM_001083961.2(WDR62):c.3412G>T (p.Gly1138Ter)
NM_001083961.2(WDR62):c.3469_3470del (p.Ala1157fs) rs2145874989
NM_001083961.2(WDR62):c.3711_3714del (p.Ser1237fs)
NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)
NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) rs397704725
NM_001083961.2(WDR62):c.3863G>A (p.Trp1288Ter)
NM_001083961.2(WDR62):c.3936dup (p.Val1313fs) rs587776900
NM_001083961.2(WDR62):c.3948G>A (p.Gln1316=) rs4375791
NM_001083961.2(WDR62):c.3950C>T (p.Pro1317Leu) rs772328050
NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) rs397704721
NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs) rs1599851667
NM_001083961.2(WDR62):c.423T>C (p.Asp141=) rs1174425209
NM_001083961.2(WDR62):c.4241dup (p.Ser1415fs) rs587776899
NM_001083961.2(WDR62):c.4283T>C (p.Phe1428Ser) rs1599851829
NM_001083961.2(WDR62):c.4312-1G>C rs1973640822
NM_001083961.2(WDR62):c.4345C>T (p.Gln1449Ter) rs1301404126
NM_001083961.2(WDR62):c.4381T>G (p.Trp1461Gly) rs61734910
NM_001083961.2(WDR62):c.4397T>A (p.Leu1466Gln) rs2145889410
NM_001083961.2(WDR62):c.4486del (p.Leu1496fs)
NM_001083961.2(WDR62):c.460C>T (p.His154Tyr)
NM_001083961.2(WDR62):c.570C>T (p.Ile190=) rs374729985
NM_001083961.2(WDR62):c.571G>A (p.Val191Ile)
NM_001083961.2(WDR62):c.64A>C (p.Met22Leu) rs1970273180
NM_001083961.2(WDR62):c.659A>G (p.His220Arg) rs2145586826
NM_001083961.2(WDR62):c.669del (p.Trp224fs) rs1599760058
NM_001083961.2(WDR62):c.66G>A (p.Met22Ile)
NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) rs267607176
NM_001083961.2(WDR62):c.699+11G>C rs886054356
NM_001083961.2(WDR62):c.75dup (p.Pro26fs) rs1568560516
NM_001083961.2(WDR62):c.803G>C (p.Ser268Thr) rs756848014
NM_001083961.2(WDR62):c.821A>G (p.Tyr274Cys) rs886054357
NM_001083961.2(WDR62):c.82C>G (p.Arg28Gly) rs200283315
NM_001083961.2(WDR62):c.836G>A (p.Cys279Tyr) rs1971033478
NM_001083961.2(WDR62):c.883-4_890del rs1568334868
NM_001083961.2(WDR62):c.897del (p.Cys300fs)
NM_001083961.2(WDR62):c.964G>C (p.Ala322Pro) rs587784561

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