ClinVar Miner

List of variants in gene WDR72 studied for Amelogenesis imperfecta hypomaturation type 2A3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 304
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HGVS dbSNP gnomAD frequency
NM_182758.4(WDR72):c.298A>G (p.Met100Val) rs690346 0.95957
NM_182758.4(WDR72):c.955-43C>A rs690235 0.95246
NM_182758.4(WDR72):c.339+9A>G rs690337 0.73805
NM_182758.4(WDR72):c.1407T>C (p.Tyr469=) rs6416452 0.59102
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_182758.4(WDR72):c.1195A>C (p.Lys399Gln) rs35258188 0.01531
NM_182758.4(WDR72):c.*2081C>T rs74015391 0.01510
NM_182758.4(WDR72):c.1839G>A (p.Val613=) rs78493456 0.01140
NM_182758.4(WDR72):c.1437A>C (p.Gln479His) rs34123953 0.01023
NM_182758.4(WDR72):c.857+9A>C rs139139066 0.00974
NM_182758.4(WDR72):c.*588G>A rs140879069 0.00936
NM_182758.4(WDR72):c.*3575T>C rs193055203 0.00834
NM_182758.4(WDR72):c.*3433G>A rs13329257 0.00827
NM_182758.4(WDR72):c.*3325G>A rs74015387 0.00744
NM_182758.4(WDR72):c.*3592A>G rs111488180 0.00592
NM_182758.4(WDR72):c.*852G>A rs112576390 0.00577
NM_182758.4(WDR72):c.*2947A>T rs74015388 0.00572
NM_182758.4(WDR72):c.*647G>A rs78618140 0.00478
NM_182758.4(WDR72):c.2598A>G (p.Lys866=) rs115484883 0.00442
NM_182758.4(WDR72):c.1569+7C>T rs138465897 0.00285
NM_182758.4(WDR72):c.*3511A>G rs143131142 0.00274
NM_182758.4(WDR72):c.99G>T (p.Val33=) rs144767107 0.00222
NM_182758.4(WDR72):c.*1936A>G rs148744855 0.00138
NM_182758.4(WDR72):c.*33C>T rs145549474 0.00138
NM_182758.4(WDR72):c.*2521A>G rs188128535 0.00101
NM_182758.4(WDR72):c.*3689A>G rs74871423 0.00094
NM_182758.4(WDR72):c.*1853A>G rs572582132 0.00071
NM_182758.4(WDR72):c.2942A>G (p.Gln981Arg) rs188590145 0.00053
NM_182758.4(WDR72):c.2741T>C (p.Leu914Ser) rs146698292 0.00051
NM_182758.4(WDR72):c.*3225T>G rs137867992 0.00044
NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr) rs369011394 0.00037
NM_182758.4(WDR72):c.*2390C>A rs536634979 0.00034
NM_182758.4(WDR72):c.93G>C (p.Thr31=) rs148643501 0.00032
NM_182758.4(WDR72):c.*2648C>T rs1051072411 0.00030
NM_182758.4(WDR72):c.*2620C>T rs971592308 0.00028
NM_182758.4(WDR72):c.*2593G>T rs28620845 0.00027
NM_182758.4(WDR72):c.*2215G>A rs542885153 0.00026
NM_182758.4(WDR72):c.592-8T>C rs199973374 0.00022
NM_182758.4(WDR72):c.*1470T>C rs886051294 0.00021
NM_182758.4(WDR72):c.*2504T>G rs776855982 0.00021
NM_182758.4(WDR72):c.2357T>G (p.Val786Gly) rs150548151 0.00019
NM_182758.4(WDR72):c.363G>A (p.Met121Ile) rs140373011 0.00019
NM_182758.4(WDR72):c.*1006A>G rs758330355 0.00016
NM_182758.4(WDR72):c.*1527A>G rs543611189 0.00016
NM_182758.4(WDR72):c.3162G>A (p.Pro1054=) rs143842578 0.00015
NM_182758.4(WDR72):c.*356T>C rs192271514 0.00013
NM_182758.4(WDR72):c.3253+3G>A rs369105806 0.00013
NM_182758.4(WDR72):c.*1866A>G rs143667387 0.00011
NM_182758.4(WDR72):c.*3459C>T rs935827680 0.00011
NM_182758.4(WDR72):c.1549A>G (p.Met517Val) rs200748257 0.00011
NM_182758.4(WDR72):c.*2642T>C rs1001148159 0.00010
NM_182758.4(WDR72):c.*1764T>G rs576208075 0.00009
NM_182758.4(WDR72):c.*2671G>C rs184165819 0.00009
NM_182758.4(WDR72):c.*475T>G rs964345350 0.00009
NM_182758.4(WDR72):c.737T>G (p.Leu246Arg) rs370145481 0.00008
NM_182758.4(WDR72):c.*3852T>G rs886051277 0.00007
NM_182758.4(WDR72):c.*1325T>C rs758752529 0.00006
NM_182758.4(WDR72):c.*1896T>A rs928204245 0.00006
NM_182758.4(WDR72):c.*898A>G rs886051296 0.00006
NM_182758.4(WDR72):c.*956G>A rs1469621117 0.00006
NM_182758.4(WDR72):c.*3650A>G rs886051278 0.00005
NM_182758.4(WDR72):c.*1172A>G rs1038976295 0.00004
NM_182758.4(WDR72):c.*2137T>G rs1335888154 0.00004
NM_182758.4(WDR72):c.*3126T>C rs372563214 0.00004
NM_182758.4(WDR72):c.*3691G>T rs75272713 0.00004
NM_182758.4(WDR72):c.1111G>T (p.Val371Leu) rs200333070 0.00004
NM_182758.4(WDR72):c.739C>T (p.Leu247=) rs779467417 0.00004
NM_182758.4(WDR72):c.*3810T>A rs551905947 0.00003
NM_182758.4(WDR72):c.*723C>T rs552516569 0.00003
NM_182758.4(WDR72):c.*913G>C rs188922992 0.00003
NM_182758.4(WDR72):c.127C>T (p.Leu43Phe) rs1009489505 0.00003
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) rs606231462 0.00003
NM_182758.4(WDR72):c.*2360C>T rs886051290 0.00002
NM_182758.4(WDR72):c.*2650T>C rs933412158 0.00002
NM_182758.4(WDR72):c.*2955A>G rs879270279 0.00002
NM_182758.4(WDR72):c.*3734A>G rs371978233 0.00002
NM_182758.4(WDR72):c.1476C>A (p.Ile492=) rs199536228 0.00002
NM_182758.4(WDR72):c.2985G>A (p.Ala995=) rs745403939 0.00002
NM_182758.4(WDR72):c.*1014T>C rs577502386 0.00001
NM_182758.4(WDR72):c.*1350A>T rs372471720 0.00001
NM_182758.4(WDR72):c.*1620C>T rs928121087 0.00001
NM_182758.4(WDR72):c.*179A>G rs886051297 0.00001
NM_182758.4(WDR72):c.*2785G>A rs531740269 0.00001
NM_182758.4(WDR72):c.*3016G>A rs1365667800 0.00001
NM_182758.4(WDR72):c.*3128G>A rs575286357 0.00001
NM_182758.4(WDR72):c.*497C>T rs769215874 0.00001
NM_182758.4(WDR72):c.*640T>C rs1281123577 0.00001
NM_182758.4(WDR72):c.1207G>A (p.Gly403Arg) rs886051301 0.00001
NM_182758.4(WDR72):c.1529G>A (p.Gly510Asp) rs748269156 0.00001
NM_182758.4(WDR72):c.153+14A>C rs529865673 0.00001
NM_182758.4(WDR72):c.1574G>A (p.Arg525Lys) rs777274290 0.00001
NM_182758.4(WDR72):c.1678G>A (p.Val560Met) rs369193227 0.00001
NM_182758.4(WDR72):c.1963-10G>A rs2013763075 0.00001
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) rs557128345 0.00001
NM_182758.4(WDR72):c.2707T>G (p.Tyr903Asp) rs750256834 0.00001
NM_182758.4(WDR72):c.408C>T (p.Val136=) rs886051303 0.00001
NM_182758.4(WDR72):c.957A>T (p.Glu319Asp) rs1029083427 0.00001
NM_182758.4(WDR72):c.*1175G>T rs572496420
NM_182758.4(WDR72):c.*1183G>A rs886051295
NM_182758.4(WDR72):c.*1528C>G rs1891450952
NM_182758.4(WDR72):c.*1553G>C rs1891449343
NM_182758.4(WDR72):c.*1577G>C rs886051293
NM_182758.4(WDR72):c.*1583T>C rs886051292
NM_182758.4(WDR72):c.*1859A>G rs1891432762
NM_182758.4(WDR72):c.*2003G>C rs1891422335
NM_182758.4(WDR72):c.*2050C>A rs561453499
NM_182758.4(WDR72):c.*2209C>T rs556155906
NM_182758.4(WDR72):c.*2378T>A rs767102554
NM_182758.4(WDR72):c.*2470A>G rs1891398511
NM_182758.4(WDR72):c.*2587G>C rs1333938684
NM_182758.4(WDR72):c.*2766G>C rs1891351217
NM_182758.4(WDR72):c.*2919T>G rs886051281
NM_182758.4(WDR72):c.*3334A>G rs1015802614
NM_182758.4(WDR72):c.*3423A>C rs74015386
NM_182758.4(WDR72):c.*3470C>T rs886051280
NM_182758.4(WDR72):c.*3514G>T rs185236656
NM_182758.4(WDR72):c.*3594A>C rs886051279
NM_182758.4(WDR72):c.*3627C>T rs1595717383
NM_182758.4(WDR72):c.1048A>G (p.Thr350Ala)
NM_182758.4(WDR72):c.1079C>A (p.Ser360Tyr)
NM_182758.4(WDR72):c.1081A>G (p.Lys361Glu)
NM_182758.4(WDR72):c.1096C>T (p.Pro366Ser)
NM_182758.4(WDR72):c.1118C>T (p.Ala373Val)
NM_182758.4(WDR72):c.1125G>T (p.Trp375Cys)
NM_182758.4(WDR72):c.1146T>G (p.Asp382Glu)
NM_182758.4(WDR72):c.114G>C (p.Glu38Asp)
NM_182758.4(WDR72):c.1177G>A (p.Asp393Asn)
NM_182758.4(WDR72):c.118C>T (p.Gln40Ter)
NM_182758.4(WDR72):c.1205C>T (p.Ala402Val)
NM_182758.4(WDR72):c.1210A>G (p.Thr404Ala)
NM_182758.4(WDR72):c.1283T>G (p.Ile428Ser)
NM_182758.4(WDR72):c.1288A>G (p.Ile430Val) rs2017308454
NM_182758.4(WDR72):c.1316C>A (p.Ala439Glu)
NM_182758.4(WDR72):c.1325T>C (p.Leu442Pro)
NM_182758.4(WDR72):c.1348+1G>T
NM_182758.4(WDR72):c.1349-17G>A
NM_182758.4(WDR72):c.1394C>G (p.Thr465Ser) rs886051300
NM_182758.4(WDR72):c.1412A>G (p.His471Arg)
NM_182758.4(WDR72):c.1412_1420dup (p.Leu473_Ser474insTyrGlyLeu)
NM_182758.4(WDR72):c.1424C>T (p.Ser475Leu)
NM_182758.4(WDR72):c.1468T>C (p.Cys490Arg)
NM_182758.4(WDR72):c.1484A>T (p.Asp495Val)
NM_182758.4(WDR72):c.1501A>G (p.Ile501Val)
NM_182758.4(WDR72):c.1515C>A (p.Phe505Leu)
NM_182758.4(WDR72):c.153+1G>C rs368092923
NM_182758.4(WDR72):c.1569+5_1569+16del
NM_182758.4(WDR72):c.1570-3C>T
NM_182758.4(WDR72):c.1597G>T (p.Val533Leu)
NM_182758.4(WDR72):c.1604G>A (p.Gly535Asp) rs1200122301
NM_182758.4(WDR72):c.1606G>C (p.Asp536His)
NM_182758.4(WDR72):c.1615G>T (p.Val539Leu)
NM_182758.4(WDR72):c.1621C>G (p.Leu541Val)
NM_182758.4(WDR72):c.1635G>A (p.Glu545=)
NM_182758.4(WDR72):c.1645T>C (p.Cys549Arg)
NM_182758.4(WDR72):c.1648C>T (p.Leu550Phe)
NM_182758.4(WDR72):c.1649T>G (p.Leu550Arg)
NM_182758.4(WDR72):c.1659C>T (p.Ala553=) rs886051299
NM_182758.4(WDR72):c.1669C>A (p.Leu557Ile)
NM_182758.4(WDR72):c.166G>T (p.Glu56Ter)
NM_182758.4(WDR72):c.1700C>A (p.Pro567Gln)
NM_182758.4(WDR72):c.1700C>T (p.Pro567Leu)
NM_182758.4(WDR72):c.1725A>T (p.Gly575=) rs2017110073
NM_182758.4(WDR72):c.1745A>G (p.Tyr582Cys)
NM_182758.4(WDR72):c.1754A>C (p.Glu585Ala)
NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly) rs1376457227
NM_182758.4(WDR72):c.1777dup (p.Arg593fs)
NM_182758.4(WDR72):c.1825G>A (p.Asp609Asn)
NM_182758.4(WDR72):c.1862C>G (p.Ser621Ter)
NM_182758.4(WDR72):c.1866G>C (p.Glu622Asp)
NM_182758.4(WDR72):c.1877A>G (p.His626Arg)
NM_182758.4(WDR72):c.1918G>C (p.Gly640Arg) rs886051298
NM_182758.4(WDR72):c.1947G>A (p.Val649=)
NM_182758.4(WDR72):c.1962+5G>A
NM_182758.4(WDR72):c.1963-5C>T
NM_182758.4(WDR72):c.2019dup (p.Trp674fs)
NM_182758.4(WDR72):c.2029G>A (p.Val677Ile)
NM_182758.4(WDR72):c.2041A>G (p.Ile681Val)
NM_182758.4(WDR72):c.2078T>A (p.Leu693Ter)
NM_182758.4(WDR72):c.2078T>C (p.Leu693Ser)
NM_182758.4(WDR72):c.2086A>G (p.Thr696Ala)
NM_182758.4(WDR72):c.2123A>G (p.Tyr708Cys)
NM_182758.4(WDR72):c.2127dup (p.Gly710fs)
NM_182758.4(WDR72):c.2146del (p.Ala716fs)
NM_182758.4(WDR72):c.2194A>G (p.Thr732Ala)
NM_182758.4(WDR72):c.2228C>T (p.Ala743Val)
NM_182758.4(WDR72):c.223T>C (p.Ser75Pro)
NM_182758.4(WDR72):c.2255A>G (p.Gln752Arg)
NM_182758.4(WDR72):c.2258G>T (p.Gly753Val)
NM_182758.4(WDR72):c.2265T>A (p.Asn755Lys)
NM_182758.4(WDR72):c.2267C>A (p.Thr756Asn)
NM_182758.4(WDR72):c.2267C>T (p.Thr756Ile)
NM_182758.4(WDR72):c.2280A>G (p.Ser760=)
NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter) rs267607178
NM_182758.4(WDR72):c.236A>G (p.Tyr79Cys)
NM_182758.4(WDR72):c.2383_2385delinsCC (p.Ala795fs)
NM_182758.4(WDR72):c.2388del (p.Lys796fs)
NM_182758.4(WDR72):c.243T>C (p.Val81=) rs1371448411
NM_182758.4(WDR72):c.2456T>C (p.Leu819Pro)
NM_182758.4(WDR72):c.245G>A (p.Ser82Asn)
NM_182758.4(WDR72):c.2469G>A (p.Lys823=)
NM_182758.4(WDR72):c.2473C>T (p.Gln825Ter)
NM_182758.4(WDR72):c.2480C>T (p.Pro827Leu)
NM_182758.4(WDR72):c.2485T>C (p.Ser829Pro)
NM_182758.4(WDR72):c.2521_2532dup (p.Pro844_Gly845insLeuMetLeuPro)
NM_182758.4(WDR72):c.2549A>G (p.Asn850Ser)
NM_182758.4(WDR72):c.2555del (p.Gly852fs)
NM_182758.4(WDR72):c.2569T>C (p.Tyr857His) rs2013726558
NM_182758.4(WDR72):c.2584T>A (p.Leu862Ile)
NM_182758.4(WDR72):c.2607C>A (p.Asp869Glu)
NM_182758.4(WDR72):c.261-8del rs34828731
NM_182758.4(WDR72):c.2653C>G (p.Pro885Ala)
NM_182758.4(WDR72):c.2675G>T (p.Cys892Phe)
NM_182758.4(WDR72):c.268T>C (p.Cys90Arg)
NM_182758.4(WDR72):c.2694A>G (p.Ser898=) rs114363728
NM_182758.4(WDR72):c.2701A>G (p.Ile901Val)
NM_182758.4(WDR72):c.2750T>C (p.Met917Thr)
NM_182758.4(WDR72):c.2794G>C (p.Glu932Gln)
NM_182758.4(WDR72):c.2795A>G (p.Glu932Gly)
NM_182758.4(WDR72):c.2807A>G (p.Asn936Ser)
NM_182758.4(WDR72):c.2810_2812del (p.Lys937del)
NM_182758.4(WDR72):c.2845T>G (p.Ser949Ala)
NM_182758.4(WDR72):c.2848A>G (p.Ser950Gly)
NM_182758.4(WDR72):c.2855A>G (p.Tyr952Cys)
NM_182758.4(WDR72):c.2857del (p.Ser953fs) rs606231351
NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)
NM_182758.4(WDR72):c.2867G>A (p.Arg956Gln)
NM_182758.4(WDR72):c.2867G>T (p.Arg956Leu)
NM_182758.4(WDR72):c.2871_2872+7del
NM_182758.4(WDR72):c.2872+42del rs34829468
NM_182758.4(WDR72):c.2872+4A>G rs1595794133
NM_182758.4(WDR72):c.2875A>G (p.Lys959Glu)
NM_182758.4(WDR72):c.2900C>G (p.Ala967Gly)
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter) rs143816093
NM_182758.4(WDR72):c.2951A>C (p.Gln984Pro)
NM_182758.4(WDR72):c.2952+20C>T
NM_182758.4(WDR72):c.2952+8A>G
NM_182758.4(WDR72):c.297C>A (p.Cys99Ter)
NM_182758.4(WDR72):c.2980T>A (p.Leu994Met)
NM_182758.4(WDR72):c.299T>G (p.Met100Arg)
NM_182758.4(WDR72):c.3125T>G (p.Val1042Gly)
NM_182758.4(WDR72):c.3128G>T (p.Arg1043Ile) rs2012816001
NM_182758.4(WDR72):c.3149-30CT[13] rs57737580
NM_182758.4(WDR72):c.3155T>G (p.Val1052Gly)
NM_182758.4(WDR72):c.3159C>T (p.Ser1053=)
NM_182758.4(WDR72):c.3161C>T (p.Pro1054Leu)
NM_182758.4(WDR72):c.3179A>C (p.Asn1060Thr)
NM_182758.4(WDR72):c.3211G>C (p.Asp1071His)
NM_182758.4(WDR72):c.3214A>G (p.Met1072Val)
NM_182758.4(WDR72):c.3217C>T (p.Pro1073Ser)
NM_182758.4(WDR72):c.3245A>G (p.Glu1082Gly)
NM_182758.4(WDR72):c.3245A>T (p.Glu1082Val) rs1891896792
NM_182758.4(WDR72):c.3256G>A (p.Glu1086Lys)
NM_182758.4(WDR72):c.3280G>A (p.Ala1094Thr)
NM_182758.4(WDR72):c.357C>T (p.Phe119=)
NM_182758.4(WDR72):c.359G>A (p.Arg120Gln)
NM_182758.4(WDR72):c.37C>T (p.Gln13Ter)
NM_182758.4(WDR72):c.386G>A (p.Cys129Tyr)
NM_182758.4(WDR72):c.406G>A (p.Val136Ile)
NM_182758.4(WDR72):c.409C>G (p.Leu137Val) rs140484726
NM_182758.4(WDR72):c.409C>T (p.Leu137Phe)
NM_182758.4(WDR72):c.416T>C (p.Ile139Thr)
NM_182758.4(WDR72):c.428C>G (p.Thr143Ser)
NM_182758.4(WDR72):c.43G>A (p.Ala15Thr)
NM_182758.4(WDR72):c.474G>A (p.Trp158Ter)
NM_182758.4(WDR72):c.476_478del (p.Ile159del)
NM_182758.4(WDR72):c.497A>C (p.His166Pro)
NM_182758.4(WDR72):c.50C>A (p.Pro17His)
NM_182758.4(WDR72):c.517G>A (p.Asp173Asn)
NM_182758.4(WDR72):c.521C>G (p.Ser174Cys)
NM_182758.4(WDR72):c.53A>G (p.His18Arg) rs200374434
NM_182758.4(WDR72):c.552_554delinsGGTG (p.Lys185fs)
NM_182758.4(WDR72):c.556G>A (p.Val186Ile)
NM_182758.4(WDR72):c.561G>A (p.Trp187Ter)
NM_182758.4(WDR72):c.569C>T (p.Ser190Phe)
NM_182758.4(WDR72):c.56G>A (p.Ser19Asn)
NM_182758.4(WDR72):c.587T>A (p.Ile196Asn)
NM_182758.4(WDR72):c.591+1G>C
NM_182758.4(WDR72):c.644G>T (p.Cys215Phe)
NM_182758.4(WDR72):c.655C>T (p.Arg219Ter)
NM_182758.4(WDR72):c.681_683dup (p.Leu229_Val230insLeu)
NM_182758.4(WDR72):c.711_711+1delinsTT
NM_182758.4(WDR72):c.733dup (p.Ser245fs)
NM_182758.4(WDR72):c.766C>G (p.Gln256Glu) rs886051302
NM_182758.4(WDR72):c.841T>C (p.Tyr281His)
NM_182758.4(WDR72):c.858-1G>C
NM_182758.4(WDR72):c.858-2A>G
NM_182758.4(WDR72):c.868_880del (p.Lys290fs)
NM_182758.4(WDR72):c.872G>A (p.Ser291Asn)
NM_182758.4(WDR72):c.872G>C (p.Ser291Thr)
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182758.4(WDR72):c.89G>T (p.Arg30Leu)
NM_182758.4(WDR72):c.905A>C (p.Glu302Ala)
NM_182758.4(WDR72):c.941T>C (p.Val314Ala)
NM_182758.4(WDR72):c.954+1_954+10del
NM_182758.4(WDR72):c.954G>A (p.Lys318=)
NM_182758.4(WDR72):c.957A>G (p.Glu319=) rs1029083427
NM_182758.4(WDR72):c.95T>C (p.Ile32Thr)
NM_182758.4(WDR72):c.964C>A (p.Arg322Ser)
NM_182758.4(WDR72):c.964C>T (p.Arg322Cys)
NM_182758.4(WDR72):c.965G>A (p.Arg322His)
NM_182758.4(WDR72):c.986T>C (p.Met329Thr)
NM_182758.4(WDR72):c.997A>T (p.Lys333Ter)
NM_182758.4:c.-13+989_7del

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