ClinVar Miner

List of variants studied for amelogenesis imperfecta

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 650
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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_000228.3(LAMB3):c.823-15C>T rs4844863 0.84219
NM_198488.5(FAM83H):c.1827C>T (p.Tyr609=) rs13254035 0.81988
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=) rs2179402 0.74805
NM_182758.4(WDR72):c.339+9A>G rs690337 0.73805
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser) rs2907373 0.72701
NM_005220.3(DLX3):c.*928A>G rs12452477 0.72043
NM_004771.4(MMP20):c.53A>C (p.Lys18Thr) rs2245803 0.64460
NM_198488.5(FAM83H):c.2884C>T (p.Leu962=) rs11136321 0.60606
NM_182758.4(WDR72):c.1407T>C (p.Tyr469=) rs6416452 0.59102
NM_000228.3(LAMB3):c.184-70A>G rs2076357 0.57810
NM_000228.3(LAMB3):c.291A>C (p.Ser97=) rs2076356 0.56410
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=) rs1049607 0.44327
NM_004771.4(MMP20):c.824T>C (p.Val275Ala) rs1784423 0.39994
NM_004771.4(MMP20):c.842C>A (p.Thr281Asn) rs1784424 0.39948
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_000228.3(LAMB3):c.384C>T (p.Pro128=) rs1130667 0.30741
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys) rs2302234 0.30437
NM_000228.3(LAMB3):c.1976+169T>C rs4844860 0.29396
NM_000228.3(LAMB3):c.298+50T>A rs2076355 0.28812
NM_000228.3(LAMB3):c.2556+60C>T rs3737913 0.27290
NM_000228.3(LAMB3):c.*102C>T rs2566 0.27226
NM_005220.3(DLX3):c.-64C>T rs2278163 0.26785
NM_000228.3(LAMB3):c.138C>T (p.Thr46=) rs2228339 0.25110
NM_031889.3(ENAM):c.*687G>C rs7665492 0.23393
NM_031889.3(ENAM):c.*264C>G rs7664896 0.21636
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_031889.3(ENAM):c.-123G>A rs1993579 0.21005
NM_005220.3(DLX3):c.402G>A (p.Thr134=) rs2303466 0.18221
NM_005220.3(DLX3):c.516+23C>T rs2303467 0.18199
NM_031889.3(ENAM):c.1943T>C (p.Ile648Thr) rs7671281 0.17081
NM_031889.3(ENAM):c.*584A>T rs7695611 0.13488
NM_031889.3(ENAM):c.*342T>C rs7679569 0.13105
NM_031889.3(ENAM):c.*1512G>A rs28703660 0.13103
NM_031889.3(ENAM):c.2288G>A (p.Arg763Gln) rs3796704 0.13050
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met) rs2076349 0.12644
NM_000228.3(LAMB3):c.1486-18G>A rs2076350 0.12625
NM_000228.3(LAMB3):c.1289-52G>A rs2072938 0.12083
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=) rs3179860 0.11219
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu) rs12748250 0.11215
NM_198488.5(FAM83H):c.1493C>T (p.Pro498Leu) rs1137806 0.11038
NM_031889.3(ENAM):c.*1829G>A rs76219814 0.09902
NM_005220.3(DLX3):c.*1326T>A rs3803877 0.09111
NM_005220.3(DLX3):c.-134C>A rs10459948 0.08249
NM_005220.3(DLX3):c.138C>T (p.Pro46=) rs33937843 0.08182
NM_005220.3(DLX3):c.-189G>T rs34783534 0.06775
NM_005220.3(DLX3):c.*1300C>G rs3803878 0.06607
NM_005220.3(DLX3):c.*1016G>C rs74607282 0.06204
NM_031889.3(ENAM):c.1726T>C (p.Phe576Leu) rs2609428 0.04187
NM_031889.3(ENAM):c.*1799T>C rs1055660 0.03953
NM_031889.3(ENAM):c.*1635G>C rs73824820 0.03199
NM_017565.4(FAM20A):c.640+11T>C rs8071830 0.02884
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=) rs2229465 0.02743
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp) rs2076222 0.02691
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) rs2072937 0.02665
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser) rs2229466 0.02614
NM_000228.3(LAMB3):c.564+10G>A rs12410975 0.02306
NM_031889.3(ENAM):c.*1500G>A rs72654391 0.02266
NM_004771.4(MMP20):c.810C>T (p.Tyr270=) rs11225343 0.02179
NM_005220.3(DLX3):c.*494A>G rs78617063 0.02070
NM_031889.3(ENAM):c.*936T>A rs115766831 0.02004
NM_005220.3(DLX3):c.*679C>T rs77798106 0.01827
NM_016519.6(AMBN):c.882C>A (p.His294Gln) rs113506649 0.01779
NM_031889.3(ENAM):c.1926C>T (p.Thr642=) rs6813313 0.01562
NM_182758.4(WDR72):c.1195A>C (p.Lys399Gln) rs35258188 0.01531
NM_182758.4(WDR72):c.*2081C>T rs74015391 0.01510
NM_017565.4(FAM20A):c.928+16G>A rs16973042 0.01441
NM_031889.3(ENAM):c.2171C>T (p.Pro724Leu) rs3796703 0.01388
NM_017565.4(FAM20A):c.18G>A (p.Arg6=) rs75228334 0.01179
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_031889.3(ENAM):c.177G>T (p.Arg59=) rs2609429 0.01011
NM_031889.3(ENAM):c.1165G>A (p.Gly389Ser) rs74511578 0.01007
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_005220.3(DLX3):c.582G>A (p.Pro194=) rs11868203 0.00824
NM_004771.4(MMP20):c.505A>C (p.Ile169Leu) rs17099008 0.00801
NM_031889.3(ENAM):c.3320G>A (p.Ser1107Asn) rs71599965 0.00757
NM_182758.4(WDR72):c.*3325G>A rs74015387 0.00744
NM_004771.4(MMP20):c.415G>A (p.Asp139Asn) rs17099014 0.00724
NM_004771.4(MMP20):c.870A>T (p.Pro290=) rs17098831 0.00615
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_004771.4(MMP20):c.92C>T (p.Pro31Leu) rs61730847 0.00465
NM_182758.4(WDR72):c.2598A>G (p.Lys866=) rs115484883 0.00442
NM_004771.4(MMP20):c.1313G>C (p.Gly438Ala) rs61753770 0.00414
NM_005220.3(DLX3):c.*986C>T rs113406148 0.00384
NM_000888.5(ITGB6):c.1312G>A (p.Val438Met) rs61737764 0.00345
NM_031889.3(ENAM):c.1396G>A (p.Val466Ile) rs148712673 0.00340
NM_005220.3(DLX3):c.*527G>A rs188986974 0.00290
NM_182758.4(WDR72):c.1569+7C>T rs138465897 0.00285
NM_182758.4(WDR72):c.*3511A>G rs143131142 0.00274
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339 0.00261
NM_017565.4(FAM20A):c.444C>T (p.Ser148=) rs139743735 0.00235
NM_005220.3(DLX3):c.*1335C>T rs529185809 0.00228
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_004771.4(MMP20):c.274A>G (p.Met92Val) rs61730848 0.00223
NM_182758.4(WDR72):c.99G>T (p.Val33=) rs144767107 0.00222
NM_005220.3(DLX3):c.*1410G>A rs564135525 0.00206
NM_031889.3(ENAM):c.*1797G>A rs114352676 0.00186
NM_198488.5(FAM83H):c.1669G>T (p.Gly557Cys) rs312262803 0.00183
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys) rs142563930 0.00179
NM_031889.3(ENAM):c.1181A>T (p.Tyr394Phe) rs142747446 0.00177
NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu) rs149589493 0.00172
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_004771.4(MMP20):c.910G>A (p.Ala304Thr) rs148818720 0.00153
NM_182758.4(WDR72):c.*1936A>G rs148744855 0.00138
NM_182758.4(WDR72):c.*33C>T rs145549474 0.00138
NM_031889.3(ENAM):c.3072T>C (p.Pro1024=) rs138729240 0.00131
NM_152222.2(RELT):c.1264C>T (p.Arg422Trp) rs139368769 0.00108
NM_182758.4(WDR72):c.*2521A>G rs188128535 0.00101
NM_182758.4(WDR72):c.*3689A>G rs74871423 0.00094
NM_004771.4(MMP20):c.383A>C (p.Lys128Thr) rs61753771 0.00090
NM_004771.4(MMP20):c.723A>G (p.Ser241=) rs139717539 0.00081
NM_182758.4(WDR72):c.*1853A>G rs572582132 0.00071
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter) rs104894704 0.00068
NM_005220.3(DLX3):c.832G>A (p.Gly278Arg) rs151180891 0.00067
NM_005220.3(DLX3):c.*1296G>A rs117813438 0.00066
NM_031889.3(ENAM):c.*256G>A rs117342040 0.00061
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr) rs147702169 0.00058
NM_031889.3(ENAM):c.*1115C>G rs780401016 0.00057
NM_005220.3(DLX3):c.*707C>T rs185357085 0.00056
NM_017565.4(FAM20A):c.1314C>T (p.His438=) rs78050433 0.00053
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_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_182758.4(WDR72):c.*3225T>G rs137867992 0.00044
NM_005220.3(DLX3):c.*868C>T rs540375923 0.00043
NM_005220.3(DLX3):c.-135C>T rs532523216 0.00043
NM_005220.3(DLX3):c.*1272T>C rs192378506 0.00042
NM_031889.3(ENAM):c.2205T>C (p.Ser735=) rs144225109 0.00042
NM_031889.3(ENAM):c.*884A>G rs193199459 0.00039
NM_031889.3(ENAM):c.*1374A>G rs576147094 0.00037
NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr) rs369011394 0.00037
NM_005220.3(DLX3):c.*437G>A rs111413176 0.00034
NM_182758.4(WDR72):c.*2390C>A rs536634979 0.00034
NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln) rs146809464 0.00033
NM_182758.4(WDR72):c.93G>C (p.Thr31=) rs148643501 0.00032
NM_004771.4(MMP20):c.254G>A (p.Gly85Glu) rs200482846 0.00031
NM_017565.4(FAM20A):c.513T>C (p.His171=) rs181817943 0.00030
NM_182758.4(WDR72):c.*2648C>T rs1051072411 0.00030
NM_005220.3(DLX3):c.*60G>A rs3744540 0.00029
NM_005220.3(DLX3):c.-37C>G rs375929276 0.00029
NM_031889.3(ENAM):c.*1079G>A rs539454338 0.00029
NM_031889.3(ENAM):c.2994G>T (p.Leu998=) rs148122591 0.00029
NM_031889.3(ENAM):c.263A>G (p.Gln88Arg) rs565258194 0.00028
NM_182758.4(WDR72):c.*2620C>T rs971592308 0.00028
NM_182758.4(WDR72):c.*2593G>T rs28620845 0.00027
NM_004771.4(MMP20):c.453C>T (p.Ser151=) rs143965716 0.00026
NM_005220.3(DLX3):c.*726T>C rs190429946 0.00026
NM_182758.4(WDR72):c.*2215G>A rs542885153 0.00026
NM_005220.3(DLX3):c.90T>C (p.Pro30=) rs145424773 0.00025
NM_004771.4(MMP20):c.1422G>A (p.Val474=) rs373697258 0.00024
NM_005220.3(DLX3):c.736G>C (p.Asp246His) rs3744539 0.00023
NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile) rs145784842 0.00023
NM_031889.3(ENAM):c.3277C>T (p.Pro1093Ser) rs35951442 0.00022
NM_182758.4(WDR72):c.592-8T>C rs199973374 0.00022
NM_005220.3(DLX3):c.*988G>A rs555823151 0.00021
NM_005220.3(DLX3):c.-190C>T rs886053136 0.00021
NM_182758.4(WDR72):c.*1470T>C rs886051294 0.00021
NM_182758.4(WDR72):c.*2504T>G rs776855982 0.00021
NM_005220.3(DLX3):c.-121C>T rs756924776 0.00020
NM_017565.4(FAM20A):c.43C>T (p.Leu15=) rs372862593 0.00020
NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln) rs140917285 0.00019
NM_031889.3(ENAM):c.*1143G>A rs755589473 0.00019
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_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_031889.3(ENAM):c.2315C>A (p.Ala772Asp) rs144070672 0.00018
NM_031889.3(ENAM):c.*1241C>A rs556213549 0.00017
NM_004771.4(MMP20):c.372C>T (p.Tyr124=) rs143362660 0.00016
NM_005220.3(DLX3):c.*723T>G rs182361413 0.00016
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) rs376802484 0.00016
NM_031889.3(ENAM):c.233T>C (p.Phe78Ser) rs202231676 0.00016
NM_182758.4(WDR72):c.*1006A>G rs758330355 0.00016
NM_182758.4(WDR72):c.*1527A>G rs543611189 0.00016
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) rs142912342 0.00015
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile) rs182816928 0.00015
NM_182758.4(WDR72):c.3162G>A (p.Pro1054=) rs143842578 0.00015
NM_004771.4(MMP20):c.1219C>T (p.Leu407Phe) rs150191942 0.00014
NM_005220.3(DLX3):c.*1328T>G rs568427405 0.00014
NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu) rs528874230 0.00014
NM_017565.4(FAM20A):c.792C>T (p.Ile264=) rs139591838 0.00014
NM_031889.3(ENAM):c.2172G>A (p.Pro724=) rs149573021 0.00014
NM_004771.4(MMP20):c.757C>T (p.Pro253Ser) rs138853084 0.00013
NM_031889.3(ENAM):c.637C>T (p.Pro213Ser) rs369065889 0.00013
NM_182758.4(WDR72):c.*356T>C rs192271514 0.00013
NM_182758.4(WDR72):c.3253+3G>A rs369105806 0.00013
NM_031889.3(ENAM):c.1893G>A (p.Gly631=) rs143023982 0.00012
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) rs146148316 0.00011
NM_017565.4(FAM20A):c.404+18G>A rs773191671 0.00011
NM_017565.4(FAM20A):c.984T>C (p.Ala328=) rs374633547 0.00011
NM_031889.3(ENAM):c.*518A>G rs1025272194 0.00011
NM_031889.3(ENAM):c.-60-4T>A rs182835987 0.00011
NM_031889.3(ENAM):c.2397G>T (p.Arg799Ser) rs775159311 0.00011
NM_031889.3(ENAM):c.2736C>T (p.Asp912=) rs143333113 0.00011
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531 0.00011
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_000494.4(COL17A1):c.3277+1G>A rs199527325 0.00010
NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr) rs140015315 0.00010
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) rs144411158 0.00010
NM_031889.3(ENAM):c.*605T>C rs886059591 0.00010
NM_182758.4(WDR72):c.*2642T>C rs1001148159 0.00010
NM_004771.4(MMP20):c.103A>C (p.Arg35=) rs61751462 0.00009
NM_005220.3(DLX3):c.*259C>A rs190141435 0.00009
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_005220.3(DLX3):c.-225G>A rs546133632 0.00008
NM_031889.3(ENAM):c.539T>C (p.Leu180Ser) rs367993395 0.00008
NM_182758.4(WDR72):c.737T>G (p.Leu246Arg) rs370145481 0.00008
NM_004771.4(MMP20):c.855C>A (p.Ala285=) rs768882792 0.00007
NM_005220.3(DLX3):c.*1164A>G rs1024414003 0.00007
NM_005220.3(DLX3):c.*548C>T rs997326806 0.00007
NM_017565.4(FAM20A):c.321G>C (p.Pro107=) rs568029338 0.00007
NM_031889.3(ENAM):c.1656C>G (p.Ile552Met) rs145361338 0.00007
NM_182758.4(WDR72):c.*3852T>G rs886051277 0.00007
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_004771.4(MMP20):c.102G>A (p.Trp34Ter) rs587777516 0.00006
NM_004771.4(MMP20):c.808T>C (p.Tyr270His) rs778890652 0.00006
NM_005220.3(DLX3):c.798G>A (p.Pro266=) rs569475772 0.00006
NM_017565.4(FAM20A):c.342C>T (p.Asp114=) rs778101746 0.00006
NM_031889.3(ENAM):c.*156G>A rs886059587 0.00006
NM_031889.3(ENAM):c.1103G>A (p.Arg368His) rs780933451 0.00006
NM_031889.3(ENAM):c.332A>C (p.Lys111Thr) rs532584416 0.00006
NM_031889.3(ENAM):c.3400G>T (p.Val1134Leu) rs200396980 0.00006
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_000228.3(LAMB3):c.2632C>T (p.Arg878Cys) rs199946321 0.00004
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser) rs148469975 0.00004
NM_004771.4(MMP20):c.1053C>T (p.Tyr351=) rs752244634 0.00004
NM_004771.4(MMP20):c.1108A>G (p.Thr370Ala) rs774909387 0.00004
NM_004771.4(MMP20):c.375-11C>T rs538004005 0.00004
NM_005220.3(DLX3):c.*1252C>G rs3803879 0.00004
NM_005220.3(DLX3):c.140A>G (p.Gln47Arg) rs773002632 0.00004
NM_005220.3(DLX3):c.698C>T (p.Pro233Leu) rs146899668 0.00004
NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser) rs766476867 0.00004
NM_031889.3(ENAM):c.*1528C>T rs141963911 0.00004
NM_031889.3(ENAM):c.888C>T (p.Asn296=) rs778224567 0.00004
NM_033068.3(ACP4):c.226C>T (p.Arg76Cys) rs1057519277 0.00004
NM_152222.2(RELT):c.1169_1170del (p.Pro390fs) rs772929908 0.00004
NM_178497.3(C4orf26):c.318G>A rs146645381 0.00004
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_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_004771.4(MMP20):c.183T>C (p.Val61=) rs778944042 0.00003
NM_004771.4(MMP20):c.454G>A (p.Ala152Thr) rs370166894 0.00003
NM_005220.3(DLX3):c.*75G>A rs1051660674 0.00003
NM_017565.4(FAM20A):c.813-2A>G rs587776912 0.00003
NM_031889.3(ENAM):c.1289A>G (p.Asn430Ser) rs769265756 0.00003
NM_031889.3(ENAM):c.588G>C (p.Gly196=) rs762381494 0.00003
NM_031889.3(ENAM):c.632G>A (p.Arg211His) rs200521750 0.00003
NM_031889.3(ENAM):c.871C>T (p.Pro291Ser) rs752076298 0.00003
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773 0.00003
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_000228.3(LAMB3):c.1132+5G>A rs770302956 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter) rs730880297 0.00002
NM_004771.4(MMP20):c.66A>G (p.Ala22=) rs144554695 0.00002
NM_005220.3(DLX3):c.636A>G (p.Ser212=) rs759832786 0.00002
NM_033068.3(ACP4):c.382G>C (p.Ala128Pro) rs767907487 0.00002
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_000228.3(LAMB3):c.2397A>G (p.Ile799Met) rs114544692 0.00001
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter) rs1564685400 0.00001
NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) rs431825177 0.00001
NM_004771.4(MMP20):c.*427A>T rs2292729 0.00001
NM_004771.4(MMP20):c.*481A>G rs1269175482 0.00001
NM_004771.4(MMP20):c.127-14C>A rs375856007 0.00001
NM_004771.4(MMP20):c.1296T>C (p.Thr432=) rs1303032939 0.00001
NM_004771.4(MMP20):c.1366T>C (p.Phe456Leu) rs768247344 0.00001
NM_004771.4(MMP20):c.1424T>C (p.Val475Ala) rs751829476 0.00001
NM_004771.4(MMP20):c.375-10G>A rs781268807 0.00001
NM_004771.4(MMP20):c.67G>A (p.Ala23Thr) rs762774990 0.00001
NM_004771.4(MMP20):c.711C>T (p.Ser237=) rs779994078 0.00001
NM_004917.5(KLK4):c.632del (p.Leu211fs) rs556734208 0.00001
NM_004917.5(KLK4):c.637T>C (p.Cys213Arg) rs1266288524 0.00001
NM_005220.3(DLX3):c.*124C>A rs886053133 0.00001
NM_005220.3(DLX3):c.*429C>G rs1358552045 0.00001
NM_005220.3(DLX3):c.*812G>A rs1906056965 0.00001
NM_005220.3(DLX3):c.*821C>A rs886053131 0.00001
NM_005220.3(DLX3):c.-62C>A rs1489241968 0.00001
NM_005220.3(DLX3):c.326-15G>T rs778835890 0.00001
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) rs387907215 0.00001
NM_031889.3(ENAM):c.*1565A>C rs920214074 0.00001
NM_031889.3(ENAM):c.*222A>G rs1161162098 0.00001
NM_031889.3(ENAM):c.*69T>A rs886059586 0.00001
NM_031889.3(ENAM):c.-45A>G rs748261893 0.00001
NM_031889.3(ENAM):c.1080G>A (p.Arg360=) rs765775414 0.00001
NM_031889.3(ENAM):c.1265C>G (p.Pro422Arg) rs777996409 0.00001
NM_031889.3(ENAM):c.1827G>A (p.Arg609=) rs375265900 0.00001
NM_031889.3(ENAM):c.2573C>T (p.Ser858Leu) rs774203624 0.00001
NM_031889.3(ENAM):c.2686T>A (p.Tyr896Asn) rs754676479 0.00001
NM_031889.3(ENAM):c.2688T>A (p.Tyr896Ter) rs778381344 0.00001
NM_031889.3(ENAM):c.2816G>A (p.Arg939Lys) rs752376600 0.00001
NM_031889.3(ENAM):c.2979T>C (p.Asp993=) rs747440840 0.00001
NM_031889.3(ENAM):c.2998C>G (p.Gln1000Glu) rs886059585 0.00001
NM_031889.3(ENAM):c.3007G>A (p.Glu1003Lys) rs775162070 0.00001
NM_031889.3(ENAM):c.899A>G (p.Gln300Arg) rs886059583 0.00001
NM_031889.3(ENAM):c.950G>A (p.Arg317His) rs373870116 0.00001
NM_033068.3(ACP4):c.397G>A (p.Glu133Lys) rs779823931 0.00001
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu) rs763573828 0.00001
NM_153646.4(SLC24A4):c.1015C>T (p.Arg339Ter) rs587777535 0.00001
NM_178497.5(ODAPH):c.229C>T (p.Arg77Ter) rs866941536 0.00001
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_000094.4(COL7A1):c.2440+3A>C
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
NM_000228.3(LAMB3):c.-72C>A rs543183724
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.1289-186G>A rs61822212
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.2926del (p.Val976fs)
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3382+1G>A rs112988476
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs) rs786201004
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter) rs869320671
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) rs1553275034
NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)
NM_000228.3(LAMB3):c.3490C>T (p.Arg1164Cys)
NM_000228.3(LAMB3):c.628+2T>A rs1666753666
NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser) rs1666739864
NM_000228.3(LAMB3):c.822+33G>C rs2072940
NM_000228.3(LAMB3):c.944-14C>G
NM_000494.4(COL17A1):c.1700G>A (p.Gly567Glu)
NM_000494.4(COL17A1):c.1861G>A (p.Gly621Ser)
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
NM_000494.4(COL17A1):c.2030G>A (p.Gly677Asp)
NM_000494.4(COL17A1):c.2435-1G>A
NM_000494.4(COL17A1):c.2912del (p.Pro971fs)
NM_000494.4(COL17A1):c.2947+2T>C
NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)
NM_000494.4(COL17A1):c.3397C>T (p.Arg1133Cys)
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
NM_000494.4(COL17A1):c.3456del (p.Pro1154fs)
NM_000494.4(COL17A1):c.3462_3463del (p.Gly1155fs)
NM_000494.4(COL17A1):c.3595G>C (p.Glu1199Gln)
NM_000494.4(COL17A1):c.3598G>T (p.Asp1200Tyr)
NM_000494.4(COL17A1):c.3605C>T (p.Ser1202Leu)
NM_000494.4(COL17A1):c.4147_4148del (p.Ser1383fs)
NM_000494.4(COL17A1):c.4156+2dup
NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)
NM_000888.5(ITGB6):c.1661-3C>G rs1683256077
NM_000888.5(ITGB6):c.2269-5del rs5835793
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter) rs561588576
NM_000888.5(ITGB6):c.718G>A (p.Glu240Lys)
NM_000888.5(ITGB6):c.825T>A (p.His275Gln) rs730882118
NM_001130144.3(LTBP3):c.3716G>A (p.Cys1239Tyr)
NM_001142.2(AMELX):c.110C>T (p.Thr37Ile) rs104894733
NM_001142.2(AMELX):c.113del (p.Pro38fs) rs387906487
NM_001142.2(AMELX):c.11G>C (p.Trp4Ser) rs104894738
NM_001142.2(AMELX):c.129G>C (p.Gln43His) rs431825176
NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) rs431825178
NM_001142.2(AMELX):c.143del (p.Pro48fs) rs1603038146
NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr) rs387906488
NM_001142.2(AMELX):c.166C>A (p.Pro56Thr) rs104894736
NM_001142.2(AMELX):c.289C>T (p.Gln97Ter) rs2147573600
NM_001142.2(AMELX):c.2T>C (p.Met1Thr) rs104894737
NM_001142.2(AMELX):c.378del (p.Tyr127fs) rs387906491
NM_001142.2(AMELX):c.431del (p.Pro144fs) rs387906489
NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)
NM_001142.2(AMELX):c.499del (p.Leu167fs) rs387906490
NM_001142.2(AMELX):c.529G>T (p.Glu177Ter) rs104894734
NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro) rs1057517672
NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del) rs1555409827
NM_001177676.2(GPR68):c.667_668del (p.Lys223fs) rs1057517671
NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs) rs2140845247
NM_001177676.2(GPR68):c.975dup (p.Glu326fs)
NM_001258248.2(SP6):c.817_818delinsAA (p.Ala273Lys)
NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met) rs2143647637
NM_001276290.1(PRKAR1A):c.973+4267_974-9286del
NM_001287242.1(ARHGAP6):c.49-45951_49-41228del
NM_004771.4(MMP20):c.*110A>T rs886047544
NM_004771.4(MMP20):c.*227A>C rs12278482
NM_004771.4(MMP20):c.*268T>C rs376611871
NM_004771.4(MMP20):c.*299G>A rs17098541
NM_004771.4(MMP20):c.*412G>A rs774781201
NM_004771.4(MMP20):c.*484T>C rs531522695
NM_004771.4(MMP20):c.1122A>C (p.Gln374His) rs916966344
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)
NM_004771.4(MMP20):c.1247+8T>C rs886047545
NM_004771.4(MMP20):c.1287A>G (p.Pro429=) rs200893460
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)
NM_004771.4(MMP20):c.1418G>A (p.Ser473Asn) rs1269504792
NM_004771.4(MMP20):c.1430C>G (p.Ser477Cys) rs766621123
NM_004771.4(MMP20):c.289A>T (p.Lys97Ter) rs367552668
NM_004771.4(MMP20):c.359dup (p.Asn120fs)
NM_004771.4(MMP20):c.530G>A (p.Gly177Glu)
NM_004771.4(MMP20):c.611A>G (p.His204Arg) rs786204826
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln) rs199788797
NM_004771.4(MMP20):c.641G>C (p.Gly214Ala) rs1859574030
NM_004771.4(MMP20):c.644C>T (p.Thr215Met) rs377682409
NM_004771.4(MMP20):c.666C>T (p.Thr222=) rs763757159
NM_004771.4(MMP20):c.667G>A (p.Val223Ile) rs145109609
NM_004771.4(MMP20):c.678T>A (p.His226Gln) rs587777515
NM_004771.4(MMP20):c.690T>G (p.His230Gln)
NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr) rs1565397250
NM_004771.4(MMP20):c.809_811+12delinsCCAG rs1859555583
NM_004771.4(MMP20):c.883C>G (p.Leu295Val) rs146876571
NM_004771.4(MMP20):c.[1046C>T;911C>G]
NM_004917.5(KLK4):c.170C>A (p.Ser57Ter) rs1185328501
NM_004917.5(KLK4):c.245del (p.Gly82fs) rs786204825
NM_004917.5(KLK4):c.443G>T (p.Cys148Phe)
NM_004917.5(KLK4):c.620_621del (p.Ser207fs) rs768235705
NM_005220.3(DLX3):c.*1025G>T rs1224971346
NM_005220.3(DLX3):c.*1205A>C rs886053129
NM_005220.3(DLX3):c.*1408G>A rs772459781
NM_005220.3(DLX3):c.*1505G>A rs768920190
NM_005220.3(DLX3):c.*714C>T rs886053132
NM_005220.3(DLX3):c.*83G>A rs886053134
NM_005220.3(DLX3):c.*987C>T rs575910460
NM_005220.3(DLX3):c.-131C>A rs543871008
NM_005220.3(DLX3):c.-131C>G rs543871008
NM_005220.3(DLX3):c.-132C>A rs150591955
NM_005220.3(DLX3):c.465G>A (p.Ala155=) rs534788536
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu) rs1555617226
NM_005220.3(DLX3):c.537C>A (p.Asn179Lys)
NM_005220.3(DLX3):c.561_562del (p.Tyr188fs) rs387906406
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764
NM_005220.3(DLX3):c.574dup (p.Glu192fs) rs1057518764
NM_005220.3(DLX3):c.746A>C (p.Asn249Thr) rs1906092898
NM_005220.3(DLX3):c.846C>A (p.Asn282Lys) rs886053135
NM_005220.3(DLX3):c.92C>G (p.Thr31Ser)
NM_016139.4(CHCHD2):c.418G>A (p.Val140Met) rs1562887957
NM_016519.6(AMBN):c.15+1G>A
NM_016519.6(AMBN):c.294+140_531+479del
NM_016519.6(AMBN):c.295T>C (p.Tyr99His)
NM_016519.6(AMBN):c.532-1G>C rs146238585
NM_016519.6(AMBN):c.539dup (p.Val181fs)
NM_016519.6(AMBN):c.571-1G>C
NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)
NM_016519.6(AMBN):c.76G>A (p.Ala26Thr)
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro) rs956049429
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC rs2143495812
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) rs2143965549
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn) rs771912912
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) rs587776913
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)
NM_017565.4(FAM20A):c.1219+3_1219+6del rs2086254952
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) rs149970399
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr) rs200599944
NM_017565.4(FAM20A):c.1301+5G>A
NM_017565.4(FAM20A):c.1361+1G>A
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) rs139620139
NM_017565.4(FAM20A):c.349_367del (p.Leu117fs) rs766926330
NM_017565.4(FAM20A):c.34_35del (p.Leu12fs) rs587776911
NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln)
NM_017565.4(FAM20A):c.590-2A>G rs587776914
NM_017565.4(FAM20A):c.610del (p.Ala204fs)
NM_017565.4(FAM20A):c.612del (p.Leu205fs) rs587777531
NM_017565.4(FAM20A):c.626dup (p.Cys209fs)
NM_017565.4(FAM20A):c.720-2A>G rs587777530
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) rs2143526028
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) rs2143526006
NM_017565.4(FAM20A):c.885del (p.Thr296fs) rs1568724130
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) rs760163489
NM_017565.4(FAM20A):c.928+2T>C
NM_017565.4(FAM20A):c.976_978del (p.Glu326del)
NM_017565.4(FAM20A):c.[129del;734_735del]
NM_017637.6(BNC2):c.2860G>A (p.Ala954Thr) rs763487720
NM_031889.3(ENAM):c.*1078C>T rs116148244
NM_031889.3(ENAM):c.*1211T>G rs886059593
NM_031889.3(ENAM):c.*1717G>T rs1738767754
NM_031889.3(ENAM):c.*261T>A rs145784024
NM_031889.3(ENAM):c.*422G>T rs886059589
NM_031889.3(ENAM):c.*459T>C rs995976769
NM_031889.3(ENAM):c.*653T>A rs147787859
NM_031889.3(ENAM):c.*680T>C rs1738738819
NM_031889.3(ENAM):c.*985C>T rs182854472
NM_031889.3(ENAM):c.*986G>A rs968135437
NM_031889.3(ENAM):c.-111A>T rs886059582
NM_031889.3(ENAM):c.-112A>G rs886059581
NM_031889.3(ENAM):c.-218A>G rs886059580
NM_031889.3(ENAM):c.-25G>A rs778175689
NM_031889.3(ENAM):c.-61+1G>A rs2109817825
NM_031889.3(ENAM):c.101T>C (p.Leu34Pro)
NM_031889.3(ENAM):c.1072G>A (p.Gly358Ser) rs147295492
NM_031889.3(ENAM):c.123+2T>G rs1553887511
NM_031889.3(ENAM):c.157A>T (p.Lys53Ter) rs121908109
NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter) rs1553888384
NM_031889.3(ENAM):c.1945G>A (p.Val649Ile) rs199541879
NM_031889.3(ENAM):c.2153A>C (p.Glu718Ala) rs1738668322
NM_031889.3(ENAM):c.2241C>T (p.Tyr747=) rs36064169
NM_031889.3(ENAM):c.2369C>A (p.Ala790Glu) rs1738678483
NM_031889.3(ENAM):c.2749A>C (p.Lys917Gln) rs886059584
NM_031889.3(ENAM):c.3148T>C (p.Ser1050Pro) rs1738705709
NM_031889.3(ENAM):c.3310C>A (p.Gln1104Lys) rs114751362
NM_031889.3(ENAM):c.481C>G (p.Pro161Ala) rs1738438667
NM_031889.3(ENAM):c.534+1G>A rs587776587
NM_031889.3(ENAM):c.549A>G (p.Pro183=) rs1738493259
NM_031889.3(ENAM):c.584G>T (p.Gly195Val) rs143129444
NM_031889.3(ENAM):c.588+1del rs752102959
NM_031889.3(ENAM):c.588+1dup rs752102959
NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)
NM_031889.3(ENAM):c.76A>T (p.Ile26Phe) rs141034810
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) rs1060499539
NM_033068.3(ACP4):c.1199C>A (p.Ala400Asp)
NM_033068.3(ACP4):c.262C>A (p.Arg88Ser) rs1190557090
NM_033068.3(ACP4):c.350A>G (p.Gln117Arg) rs2123287930
NM_033068.3(ACP4):c.419C>T (p.Pro140Leu) rs1371134137
NM_033068.3(ACP4):c.626T>C (p.Leu209Pro)
NM_033068.3(ACP4):c.645+1G>A
NM_033068.3(ACP4):c.736G>A (p.Val246Met)
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111
NM_152222.2(RELT):c.121-2A>G rs1565222166
NM_152222.2(RELT):c.1265G>C (p.Arg422Pro) rs762816338
NM_152222.2(RELT):c.164C>T (p.Thr55Ile) rs1866200282
NM_152222.2(RELT):c.260A>T (p.Asp87Val)
NM_152222.2(RELT):c.521T>G (p.Leu174Arg)
NM_153646.4(SLC24A4):c.1192C>T (p.Gln398Ter) rs1595312054
NM_153646.4(SLC24A4):c.1495A>T (p.Ser499Cys) rs587777536
NM_153646.4(SLC24A4):c.1716+5G>A
NM_153646.4(SLC24A4):c.437C>T (p.Ala146Val) rs587777537
NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter) rs141131742
NM_178497.5(ODAPH):c.129C>A (p.Cys43Ter) rs1560562738
NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs) rs1560558455
NM_178497.5(ODAPH):c.68-2A>T rs1560562630
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.118C>T (p.Gln40Ter)
NM_182758.4(WDR72):c.1283T>G (p.Ile428Ser)
NM_182758.4(WDR72):c.1287_1289del (p.Ile430del)
NM_182758.4(WDR72):c.1288A>G (p.Ile430Val) rs2017308454
NM_182758.4(WDR72):c.1394C>G (p.Thr465Ser) rs886051300
NM_182758.4(WDR72):c.153+1G>C rs368092923
NM_182758.4(WDR72):c.1604G>A (p.Gly535Asp) rs1200122301
NM_182758.4(WDR72):c.1659C>T (p.Ala553=) rs886051299
NM_182758.4(WDR72):c.1725A>T (p.Gly575=) rs2017110073
NM_182758.4(WDR72):c.1766-2423_1962+1074del
NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly) rs1376457227
NM_182758.4(WDR72):c.1918G>C (p.Gly640Arg) rs886051298
NM_182758.4(WDR72):c.2146del (p.Ala716fs)
NM_182758.4(WDR72):c.2332dup (p.Met778fs)
NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter) rs267607178
NM_182758.4(WDR72):c.2388del (p.Lys796fs)
NM_182758.4(WDR72):c.243T>C (p.Val81=) rs1371448411
NM_182758.4(WDR72):c.2569T>C (p.Tyr857His) rs2013726558
NM_182758.4(WDR72):c.261-8del rs34828731
NM_182758.4(WDR72):c.2680_2699delinsACTATAGTT (p.Ser894fs)
NM_182758.4(WDR72):c.2694A>G (p.Ser898=) rs114363728
NM_182758.4(WDR72):c.2857del (p.Ser953fs) rs606231351
NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)
NM_182758.4(WDR72):c.2872+42del rs34829468
NM_182758.4(WDR72):c.2872+4A>G rs1595794133
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter) rs143816093
NM_182758.4(WDR72):c.3128G>T (p.Arg1043Ile) rs2012816001
NM_182758.4(WDR72):c.3149-30CT[13] rs57737580
NM_182758.4(WDR72):c.3245A>T (p.Glu1082Val) rs1891896792
NM_182758.4(WDR72):c.409C>G (p.Leu137Val) rs140484726
NM_182758.4(WDR72):c.53A>G (p.His18Arg) rs200374434
NM_182758.4(WDR72):c.766C>G (p.Gln256Glu) rs886051302
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182758.4(WDR72):c.954+1_954+10del
NM_182758.4(WDR72):c.957A>G (p.Glu319=) rs1029083427
NM_182758.4:c.-13+989_7del
NM_198488.5(FAM83H):c.1192C>T (p.Gln398Ter) rs137854436
NM_198488.5(FAM83H):c.1243G>T (p.Glu415Ter) rs137854437
NM_198488.5(FAM83H):c.1309_1311delinsTAA (p.His437Ter) rs2129674608
NM_198488.5(FAM83H):c.1309_1311delinsTAG (p.His437Ter)
NM_198488.5(FAM83H):c.1330C>T (p.Gln444Ter) rs1818377152
NM_198488.5(FAM83H):c.1363C>T (p.Gln455Ter) rs2129674125
NM_198488.5(FAM83H):c.1366C>T (p.Gln456Ter) rs387907056
NM_198488.5(FAM83H):c.1375C>T (p.Gln459Ter)
NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter) rs137854444
NM_198488.5(FAM83H):c.1380G>A (p.Trp460Ter) rs137854439
NM_198488.5(FAM83H):c.1408C>T (p.Gln470Ter) rs137854441
NM_198488.5(FAM83H):c.1466del (p.Phe489fs)
NM_198488.5(FAM83H):c.1498C>G (p.Leu500Val)
NM_198488.5(FAM83H):c.1828G>T (p.Glu610Ter) rs1554622736
NM_198488.5(FAM83H):c.1872_1873del (p.Leu625fs) rs796065022
NM_198488.5(FAM83H):c.1915A>T (p.Lys639Ter) rs2129668758
NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter) rs137854440
NM_198488.5(FAM83H):c.2080G>T (p.Glu694Ter) rs137854443
NM_198488.5(FAM83H):c.2250C>T (p.Gly750=) rs431825179
NM_198488.5(FAM83H):c.2765G>T (p.Arg922Leu) rs431825180
NM_198488.5(FAM83H):c.2766C>T (p.Arg922=) rs431825181
NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter) rs137854442
NM_198488.5(FAM83H):c.891T>A (p.Tyr297Ter) rs137854438
NM_198488.5(FAM83H):c.923_924del (p.Leu308fs) rs796065023
NM_198488.5(FAM83H):c.926_927del (p.Val309fs) rs1554623490
NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)
NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter) rs137854435
NM_212557.4(AMTN):c.54+1348_330+98delinsCTCA

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