ClinVar Miner

List of variants studied for X-linked disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 727
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_001111125.3(IQSEC2):c.2297+14G>A rs17002631 0.02684
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_001004334.4(GPR179):c.2040C>T (p.Asp680=) rs111770829 0.02523
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_012310.5(KIF4A):c.2059C>T (p.Leu687=) rs10127080 0.01787
NM_001001344.3(ATP2B3):c.407-6G>A rs139607201 0.01600
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001368397.1(FRMPD4):c.741C>G (p.Leu247=) rs7049642 0.01254
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01179
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_000054.7(AVPR2):c.1113G>A (p.Ser371=) rs5203 0.01072
NM_007363.5(NONO):c.154+11G>C rs142366840 0.01069
NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=) rs143752287 0.01066
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_000444.6(PHEX):c.288A>G (p.Glu96=) rs112836831 0.00980
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=) rs11573531 0.00965
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_002024.6(FMR1):c.18G>T (p.Val6=) rs111485627 0.00830
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys) rs151247357 0.00794
NM_001111125.3(IQSEC2):c.737+10291G>A rs189694247 0.00773
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001356.5(DDX3X):c.104-10A>T rs112766093 0.00708
NM_031407.7(HUWE1):c.963+18T>C rs145428690 0.00694
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_031407.7(HUWE1):c.6030+20G>A rs144140925 0.00590
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_001039591.3(USP9X):c.3028-7A>G rs115310559 0.00514
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_000054.7(AVPR2):c.12G>A (p.Ala4=) rs61748993 0.00449
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001330360.2(POLA1):c.1687-15C>T rs11573348 0.00442
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val) rs148829093 0.00434
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) rs140031135 0.00412
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_000444.6(PHEX):c.1383G>A (p.Thr461=) rs77710864 0.00397
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_000381.4(MID1):c.498G>A (p.Pro166=) rs7391874 0.00376
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_144499.3(GNAT1):c.675C>T (p.Ala225=) rs4688684 0.00368
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_001320752.2(STS):c.383-16C>T rs56055086 0.00332
NM_153252.5(BRWD3):c.4572C>T (p.Phe1524=) rs34984796 0.00332
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) rs144901347 0.00327
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_000381.4(MID1):c.1242C>T (p.Tyr414=) rs142718564 0.00269
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286 0.00215
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=) rs1446705794 0.00203
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=) rs144145420 0.00192
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) rs146007249 0.00140
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_000054.7(AVPR2):c.105G>A (p.Leu35=) rs5197 0.00133
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_001042750.2(STAG2):c.45-11T>C rs183562950 0.00106
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_001271696.3(ABCB7):c.1032+12A>G rs148980611 0.00087
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) rs151125150 0.00083
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) rs41297324 0.00083
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000307.5(POU3F4):c.*192T>C rs775863791 0.00075
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000054.7(AVPR2):c.117G>A (p.Ala39=) rs374487946 0.00061
NM_033380.3(COL4A5):c.2147-12A>G rs749368555 0.00061
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001127898.4(CLCN5):c.2361-18A>G rs372830719 0.00057
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000054.7(AVPR2):c.189T>C (p.Ala63=) rs140156037 0.00053
NM_002764.4(PRPS1):c.705-11T>C rs190164271 0.00052
NM_000054.7(AVPR2):c.441G>A (p.Ala147=) rs143055328 0.00049
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) rs374638286 0.00049
NM_000444.6(PHEX):c.249C>T (p.Phe83=) rs145224279 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln) rs150549982 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu) rs141145230 0.00045
NM_006579.3(EBP):c.650C>T (p.Thr217Met) rs150348311 0.00044
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile) rs146403660 0.00042
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val) rs142236686 0.00038
NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr) rs145905162 0.00036
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355 0.00036
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00035
NM_000444.6(PHEX):c.996C>T (p.Asp332=) rs139749399 0.00034
NM_001004334.4(GPR179):c.3752C>T (p.Ser1251Leu) rs368643450 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001555.5(IGSF1):c.1141A>C (p.Asn381His) rs6637826 0.00034
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=) rs148007434 0.00033
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=) rs140829723 0.00032
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_004606.5(TAF1):c.4754-4A>G rs370696191 0.00029
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_000054.7(AVPR2):c.252C>T (p.Ala84=) rs370880911 0.00027
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_006579.3(EBP):c.13G>A (p.Ala5Thr) rs201992088 0.00027
NM_033380.3(COL4A5):c.2244+9C>T rs759349551 0.00027
NM_000444.6(PHEX):c.1437A>G (p.Pro479=) rs141436752 0.00026
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=) rs186110059 0.00026
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001318510.2(ACSL4):c.68A>G (p.His23Arg) rs199837852 0.00024
NM_033380.3(COL4A5):c.2917+18T>C rs376067886 0.00023
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=) rs200736738 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) rs140514551 0.00020
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019 0.00019
NM_033380.3(COL4A5):c.1979C>T (p.Thr660Ile) rs780612276 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr) rs752366165 0.00018
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937 0.00018
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) rs56110425 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_000539.3(RHO):c.310G>A (p.Val104Ile) rs144317206 0.00015
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) rs199540575 0.00015
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_003491.4(NAA10):c.179+20G>A rs199988253 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004595.5(SMS):c.114G>A (p.Ser38=) rs138924455 0.00014
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) rs147447379 0.00014
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) rs781790886 0.00013
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=) rs150514156 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys) rs777303823 0.00012
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00012
NM_033380.3(COL4A5):c.4315+9A>T rs764116323 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_000054.7(AVPR2):c.474G>A (p.Arg158=) rs368544649 0.00011
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) rs148124447 0.00011
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) rs754308516 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) rs782570746 0.00011
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu) rs372445055 0.00011
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser) rs760556268 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser) rs143480277 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=) rs202158967 0.00009
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val) rs748850424 0.00009
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu) rs368137679 0.00008
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr) rs147220200 0.00008
NM_000054.7(AVPR2):c.1010G>A (p.Arg337Gln) rs782160409 0.00007
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_033380.3(COL4A5):c.1497A>G (p.Pro499=) rs772348542 0.00007
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_000166.6(GJB1):c.671G>A (p.Arg224His) rs201697702 0.00006
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu) rs781053469 0.00006
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794 0.00006
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln) rs192628082 0.00006
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val) rs982188184 0.00006
NM_033380.3(COL4A5):c.528A>G (p.Pro176=) rs780845413 0.00006
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_000054.7(AVPR2):c.663C>T (p.Ile221=) rs13306212 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala) rs139348729 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met) rs372747629 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met) rs781924436 0.00005
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840 0.00005
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) rs752194539 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103 0.00005
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=) rs758753633 0.00005
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) rs749342768 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu) rs747288279 0.00005
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu) rs143778018 0.00005
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634 0.00005
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) rs368359145 0.00004
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr) rs142936195 0.00004
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206 0.00004
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala) rs147378499 0.00004
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_001159702.3(FHL1):c.-101+3A>G rs895540444 0.00004
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val) rs180869804 0.00004
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val) rs756416451 0.00004
NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg) rs761118786 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter) rs201452975 0.00004
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_006579.3(EBP):c.188G>A (p.Arg63Gln) rs782638360 0.00004
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val) rs919113147 0.00004
NM_033380.3(COL4A5):c.3993C>T (p.Leu1331=) rs751858178 0.00004
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) rs752649243 0.00004
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247 0.00003
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) rs936878316 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000444.6(PHEX):c.1587-16G>T rs374593246 0.00003
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608 0.00003
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp) rs1467649797 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) rs200450195 0.00003
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) rs1169615098 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.195C>T (p.Tyr65=) rs763572195 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu) rs764543034 0.00003
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2797C>T (p.Leu933Phe) rs191497639 0.00003
NM_033380.3(COL4A5):c.892-4A>G rs777914438 0.00003
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=) rs200299007 0.00003
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000117.3(EMD):c.241G>A (p.Asp81Asn) rs141138209 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112 0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr) rs757649304 0.00002
NM_001082486.2(ACD):c.608_609del (p.Pro203fs) rs777476880 0.00002
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) rs1489530369 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331 0.00002
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832 0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr) rs1313448533 0.00002
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val) rs1210108844 0.00002
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val) rs782088515 0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg) rs1230410861 0.00002
NM_001159699.2(FHL1):c.644G>A (p.Arg215His) rs886043053 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_001399.5(EDA):c.157C>T (p.Leu53Phe) rs974684362 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val) rs1294140756 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu) rs748573163 0.00002
NM_033380.3(COL4A5):c.1546G>C (p.Glu516Gln) rs770915647 0.00002
NM_033380.3(COL4A5):c.231+2T>C rs763538451 0.00002
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu) rs992950790 0.00002
NM_033380.3(COL4A5):c.4016-16T>G rs775007873 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr) rs991159149 0.00002
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232 0.00001
NM_000054.7(AVPR2):c.359T>C (p.Met120Thr) rs782323704 0.00001
NM_000054.7(AVPR2):c.445C>T (p.Arg149Cys) rs905300222 0.00001
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys) rs782806507 0.00001
NM_000117.3(EMD):c.400-6C>T rs782396776 0.00001
NM_000117.3(EMD):c.593C>T (p.Ser198Phe) rs1569552105 0.00001
NM_000117.3(EMD):c.620G>A (p.Arg207Gln) rs782352489 0.00001
NM_000117.3(EMD):c.631C>T (p.Arg211Cys) rs782193940 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.2732A>G (p.Asp911Gly) rs782671808 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) rs970768801 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_000444.6(PHEX):c.1008C>T (p.Ser336=) rs775973349 0.00001
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His) rs1036644594 0.00001
NM_000444.6(PHEX):c.1966-10C>G rs771050789 0.00001
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala) rs201394441 0.00001
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) rs745852247 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153 0.00001
NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala) rs747472111 0.00001
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183 0.00001
NM_001042750.2(STAG2):c.1101T>C (p.Phe367=) rs190643141 0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) rs782066542 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254 0.00001
NM_001110556.2(FLNA):c.2316C>A (p.Val772=) rs2067723075 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) rs1557178198 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) rs200953235 0.00001
NM_001159699.2(FHL1):c.189C>T (p.Ile63=) rs1424503926 0.00001
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser) rs774919566 0.00001
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys) rs762126486 0.00001
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn) rs1157004659 0.00001
NM_001159699.2(FHL1):c.836G>A (p.Arg279His) rs377071251 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) rs1394345886 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr) rs1924836688 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.474C>T (p.Tyr158=) rs375759781 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004595.5(SMS):c.997G>C (p.Gly333Arg) rs1200431087 0.00001
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048 0.00001
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) rs764670975 0.00001
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.1423+10C>T rs1161395968 0.00001
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys) rs757877136 0.00001
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=) rs375746429 0.00001
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg) rs1272041306 0.00001
NM_033380.3(COL4A5):c.2667T>C (p.Ser889=) rs1258505968 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.4315+1G>A rs587776403 0.00001
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr) rs764933317 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys) rs937985430 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe) rs748877857 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) rs143481438 0.00001
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) rs1322406234
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro) rs2148389537
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg) rs1557100711
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.449+4C>T rs886044810
NM_000117.3(EMD):c.460A>G (p.Met154Val) rs782806462
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) rs2067884177
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.420A>G (p.Ser140=) rs1158378032
NM_000444.6(PHEX):c.440C>T (p.Ala147Val) rs749081778
NM_000444.6(PHEX):c.441G>A (p.Ala147=) rs770726332
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) rs1569269085
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) rs1569268891
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp) rs144657366
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_001004334.4(GPR179):c.3460C>T (p.Gln1154Ter) rs757044884
NM_001004334.4(GPR179):c.6494C>A (p.Thr2165Lys) rs114844749
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys) rs2080106700
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del) rs745428229
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=) rs367878305
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val) rs2148114467
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly) rs2148110326
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile) rs2147004930
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) rs746834335
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys) rs2148376111
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr) rs2148371537
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His) rs146847449
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375
NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn) rs1556225792
NM_001318510.2(ACSL4):c.517-24dup rs201395146
NM_001320752.2(STS):c.259+8_259+10del rs773065157
NM_001356.5(DDX3X):c.1171-8dup rs747987697
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) rs782201995
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002764.4(PRPS1):c.123-16dup rs750392051
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) rs2065388763
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005391.5(PDK3):c.249-9dup rs374771377
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877
NM_006579.3(EBP):c.283G>A (p.Ala95Thr) rs2147154752
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=) rs562407134
NM_012280.4(FTSJ1):c.*9G>A
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup) rs886044870
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala) rs2069367677
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val) rs104886100
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala) rs104886101
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys) rs764743086
NM_033380.3(COL4A5):c.1530C>T (p.Phe510=) rs2147809019
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg) rs2147809070
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) rs2147810410
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) rs104886143
NM_033380.3(COL4A5):c.2042-2A>G rs2066636714
NM_033380.3(COL4A5):c.2057del (p.Pro686fs) rs104886167
NM_033380.3(COL4A5):c.2244+1G>T rs281874688
NM_033380.3(COL4A5):c.2396-1G>C rs886041509
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val) rs2147850123
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) rs2147865597
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter) rs2147865716
NM_033380.3(COL4A5):c.3016+2T>C rs2147869403
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val) rs1603298993
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=) rs773019423
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) rs2147953060
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs) rs2147956419
NM_033380.3(COL4A5):c.3604+3A>T rs1569505614
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs) rs2147975121
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.4247G>A (p.Arg1416His) rs753765957
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) rs2147991184
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg) rs104886276
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser) rs104886279
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.465+1G>A rs2066070056
NM_033380.3(COL4A5):c.4706+1G>T rs1569508998
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) rs104886299
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys) rs2068717823
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu) rs2068718130
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) rs104886306
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr) rs2148003771
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.891+1G>T rs104886451
NM_033380.3(COL4A5):c.892-16del rs775131776
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp) rs2147657533
NM_033380.3(COL4A5):c.935del (p.Pro312fs) rs1556407078
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) rs34740537
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2]) rs772506311
NM_080632.3(UPF3B):c.263+5_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+9_263+18dup rs55712755
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) rs387906492
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_153252.5(BRWD3):c.814-16dup rs751020595
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218

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