ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Counsyl

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 522
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HGVS dbSNP
NM_000049.3(ASPA):c.170C>T (p.Ala57Val) rs1555538148
NM_000049.3(ASPA):c.188G>C (p.Arg63Thr) rs1555538151
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.236+1G>A rs1555538157
NM_000049.3(ASPA):c.237-1G>A rs1057517291
NM_000049.3(ASPA):c.237-1G>T rs1057517291
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.2T>C (p.Met1Thr) rs1057516879
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.3(ASPA):c.432G>A (p.Lys144=) rs754087904
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) rs769653717
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) rs144321760
NM_000049.3(ASPA):c.527-2A>C rs778385612
NM_000049.3(ASPA):c.539G>T (p.Gly180Val) rs1014551540
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.3(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.3(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.3(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.3(ASPA):c.745-1G>A rs1555541278
NM_000049.3(ASPA):c.745-2A>G rs1057517066
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.838C>T (p.Pro280Ser) rs750505963
NM_000049.3(ASPA):c.839C>T (p.Pro280Leu) rs1555541310
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.3(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.3(ASPA):c.935T>G (p.Leu312Ter) rs1555541343
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000071.2(CBS):c.*19G>A rs1555869794
NM_000071.2(CBS):c.*19G>C rs1555869794
NM_000071.2(CBS):c.*20T>C rs1555869789
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1009_1012del (p.Arg336_Met337insTer) rs1555873925
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1061_1069del (p.Val354_Val356del) rs863223436
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1210_1212del (p.Glu404del) rs1555872822
NM_000071.2(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.2(CBS):c.1219_1223+8del rs1555872787
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1301C>A (p.Thr434Asn) rs1555872506
NM_000071.2(CBS):c.1304T>C (p.Ile435Thr) rs1282119406
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1321A>T (p.Lys441Ter) rs1057516645
NM_000071.2(CBS):c.1358+1G>A rs786204679
NM_000071.2(CBS):c.1358+2T>C rs866630296
NM_000071.2(CBS):c.1359-1G>C rs865990681
NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) rs121964971
NM_000071.2(CBS):c.1468-1G>A rs1057516895
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1496_1497TC[1] (p.Ser500fs) rs1555871188
NM_000071.2(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.2(CBS):c.1545del (p.Ile516fs) rs1555871095
NM_000071.2(CBS):c.1552+1G>A rs1434118781
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.2(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.2(CBS):c.1603_1604del (p.Thr535fs) rs1555869934
NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.2(CBS):c.18_36del (p.Glu9fs) rs1057516552
NM_000071.2(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.2(CBS):c.209+1G>C rs751464024
NM_000071.2(CBS):c.209+2T>C rs1555876755
NM_000071.2(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.2(CBS):c.28del (p.Val10fs) rs779250698
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.2(CBS):c.316+1G>A rs1057516256
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.346G>A (p.Gly116Arg) rs760214620
NM_000071.2(CBS):c.362G>A (p.Arg121His) rs770095972
NM_000071.2(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.2(CBS):c.373C>T (p.Arg125Trp) rs886057100
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.394C>T (p.Arg132Cys) rs140002610
NM_000071.2(CBS):c.402del (p.Thr135fs) rs1057517083
NM_000071.2(CBS):c.403_404delinsG (p.Thr135fs) rs1555875325
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.442G>A (p.Gly148Arg) rs755952006
NM_000071.2(CBS):c.451+1G>T rs1555875292
NM_000071.2(CBS):c.467del (p.Leu156fs) rs767036273
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.539T>C (p.Val180Ala) rs1555875010
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.650C>T (p.Ser217Phe) rs1555874874
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000071.2(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.707_708delinsGGTG (p.Thr236fs) rs1057517435
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.738delG rs766453711
NM_000071.2(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.829-11G>T rs371619788
NM_000071.2(CBS):c.829-1G>C rs1555874263
NM_000071.2(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.2(CBS):c.903C>G (p.Tyr301Ter) rs746575551
NM_000071.2(CBS):c.953C>T (p.Thr318Met) rs769541394
NM_000071.2(CBS):c.954+1G>A rs1057517373
NM_000071.2(CBS):c.954+2T>G rs1555874121
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152
NM_000071.2(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.2(CBS):c.982G>A (p.Asp328Asn) rs758447354
NM_000170.2(GLDC):c.*5C>G rs764814250
NM_000170.2(GLDC):c.1000T>C (p.Phe334Leu) rs149133229
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1033C>A (p.Pro345Thr) rs373263202
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.2(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.2(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
NM_000170.2(GLDC):c.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.2(GLDC):c.1381C>T (p.Arg461Trp) rs761957837
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1401+1G>A rs1211616091
NM_000170.2(GLDC):c.142G>T (p.Gly48Trp) rs1057515608
NM_000170.2(GLDC):c.1484_1489del6 rs778109389
NM_000170.2(GLDC):c.1525C>G (p.Pro509Ala) rs557412758
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.156_167del (p.Glu54_Leu57del) rs1554652793
NM_000170.2(GLDC):c.1570G>C (p.Val524Leu) rs751362463
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965
NM_000170.2(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
NM_000170.2(GLDC):c.1642C>G (p.Leu548Val) rs1554646653
NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) rs751822565
NM_000170.2(GLDC):c.1664T>G (p.Leu555Arg) rs765384489
NM_000170.2(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1819G>A (p.Gly607Ser) rs1554646517
NM_000170.2(GLDC):c.181_183GAC[1] (p.Asp62del) rs1554652789
NM_000170.2(GLDC):c.1850+1G>T rs774099283
NM_000170.2(GLDC):c.1866_1867AT[3] (p.Ala624fs) rs772068893
NM_000170.2(GLDC):c.1888C>T (p.Arg630Ter) rs751025203
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
NM_000170.2(GLDC):c.2124_2126dup (p.Asn709_Ile710insLys) rs1554643929
NM_000170.2(GLDC):c.2147T>A (p.Leu716His) rs145018304
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.2(GLDC):c.2305C>A (p.Pro769Thr) rs751114163
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2315+2T>A rs1554643738
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2317A>T (p.Lys773Ter) rs373618804
NM_000170.2(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.2(GLDC):c.2458-1G>T rs1554643370
NM_000170.2(GLDC):c.2458-2A>G rs1259354298
NM_000170.2(GLDC):c.2458A>G (p.Met820Val) rs781682244
NM_000170.2(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.2(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.2(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.2(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2666-1G>A rs1429861000
NM_000170.2(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.2(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391
NM_000170.2(GLDC):c.2888dup (p.Tyr964fs) rs1554641737
NM_000170.2(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.2(GLDC):c.2948G>A (p.Trp983Ter) rs1554641519
NM_000170.2(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.2(GLDC):c.2963G>A (p.Arg988Gln) rs749512886
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104
NM_000170.2(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.2(GLDC):c.3040G>T (p.Glu1014Ter) rs1444245039
NM_000170.2(GLDC):c.334+1G>C rs978795483
NM_000170.2(GLDC):c.334+1G>T rs978795483
NM_000170.2(GLDC):c.335-1G>C rs1554649675
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.2(GLDC):c.639_641CAA[1] (p.Asn214del) rs1222749984
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.2(GLDC):c.799C>G (p.Pro267Ala) rs1554648117
NM_000170.2(GLDC):c.800C>T (p.Pro267Leu) rs138484426
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.811G>A (p.Gly271Arg) rs1554648113
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000170.2(GLDC):c.851A>C (p.His284Pro) rs1210767970
NM_000170.2(GLDC):c.886C>T (p.Leu296Phe) rs200413149
NM_000170.2(GLDC):c.911C>T (p.Pro304Leu) rs1207147043
NM_000277.3(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.-66_-65del rs997821067
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1031G>T (p.Gly344Val) rs62508582
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1065+39G>T rs62510582
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1066-3C>T rs62507344
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) rs62508595
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.113_115TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1167_1168AG[2] (p.Ser391fs) rs1429055740
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1180del (p.Asp394fs) rs1555203666
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1198del (p.Arg400fs) rs199475590
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1199+2T>G rs62508737
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) rs199475658
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1209del (p.Ala404fs) rs1555203401
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) rs62644465
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) rs62644475
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) rs62644501
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) rs752255985
NM_000277.3(PAH):c.125_127AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1293_1294del (p.Lys431fs) rs1555203363
NM_000277.3(PAH):c.1298dup (p.Leu433fs) rs1057516377
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1314_1315+4del rs1334974448
NM_000277.3(PAH):c.1315+1G>T rs5030861
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168+5G>C rs62507288
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.169-2A>G rs1226613045
NM_000277.3(PAH):c.169-42T>A rs281865459
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677
NM_000277.3(PAH):c.281_283TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.307G>A (p.Gly103Ser) rs752792040
NM_000277.3(PAH):c.307G>T (p.Gly103Cys) rs752792040
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236
NM_000277.3(PAH):c.329del (p.Ser110fs) rs1057516389
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470
NM_000277.3(PAH):c.339_341GAA[1] (p.Lys115del) rs1555207969
NM_000277.3(PAH):c.352+11G>C rs371926082
NM_000277.3(PAH):c.352+2dup rs1057516604
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.379G>A (p.Glu127Lys) rs1555206565
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.43_44CT[2] (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.441+1G>A rs62517166
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.441+4A>G rs62508586
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.442-18G>A rs149538764
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.442-5C>G rs62514909
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) rs199475689
NM_000277.3(PAH):c.569T>C (p.Val190Ala) rs62514919
NM_000277.3(PAH):c.578_579CT[1] (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844
NM_000277.3(PAH):c.587C>A (p.Ser196Tyr) rs865899394
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.60+1G>C rs1555209932
NM_000277.3(PAH):c.60+5G>T rs62514895
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.610dup (p.Tyr204fs) rs1555204711
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589
NM_000277.3(PAH):c.689T>C (p.Val230Ala) rs199475673
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe) rs199475578
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222
NM_000277.3(PAH):c.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.790del (p.His264fs) rs1057517009
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.824C>T (p.Pro275Leu) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842+5G>A rs62516146
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.910C>T (p.Gln304Ter) rs1555204295
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-2A>C rs1555203951
NM_000277.3(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000277.3(PAH):c.926C>A (p.Ala309Asp) rs62642935
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618
NM_000277.3(PAH):c.969+6T>A rs62517196
NM_000277.3(PAH):c.969+7C>T rs80324017
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) rs62508573
NM_000277.3(PAH):c.977G>A (p.Trp326Ter) rs62514959
NM_000277.3(PAH):c.992T>C (p.Phe331Ser) rs199475614
NM_000481.3(AMT):c.1033+2T>C rs1553638247
NM_000481.3(AMT):c.1033+2dup rs976598152
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.695_696+21del rs1553638457
NM_000481.3(AMT):c.696+1G>A rs1553638460
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.4(AMT):c.*86G>T rs745685639
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1150_1152CAG[1] (p.Gln385del) rs747544827
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter) rs1553638206
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs) rs1553638191
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422
NM_000481.4(AMT):c.348_349del (p.Ser117fs) rs1553638649
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.57_59dup (p.Pro20dup) rs386833686
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup) rs1553638433
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984
NM_000481.4(AMT):c.849dup (p.Val284fs) rs1553638408
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038
NM_000481.4(AMT):c.875del (p.Leu292fs) rs1553638405
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_001321336.1(SPATA22):c.-73-12213_-73-12212del rs786204620
NM_001321336.1(SPATA22):c.-73-12213del rs1057516962
NM_001321336.1(SPATA22):c.-73-12350del rs1555538825
NM_001321336.1(SPATA22):c.-73-14183_-73-14182dup rs1555539105
NM_001321336.1(SPATA22):c.-73-19929_-73-19921del rs1555539888
NM_001321336.1(SPATA22):c.-73-19934del rs1555539897
NM_001321336.1(SPATA22):c.-73-6793del rs767666474
NM_001321336.1(SPATA22):c.-74+14343del rs1057517260
NM_001321336.1(SPATA22):c.-74+14344del rs1057516309
NM_001321336.1(SPATA22):c.-74+14389_-74+14391del rs1555541321
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790
NM_001321336.1(SPATA22):c.-74+14436del rs1555541304
NM_001321336.1(SPATA22):c.-74+14439_-74+14440del rs1057517085
NM_001321336.1(SPATA22):c.-74+14470dup rs1555541291
NM_001321336.1(SPATA22):c.-74+19004del rs1057516315
NM_001321336.1(SPATA22):c.-74+19016_-74+19019del rs1555540674
NM_001321336.1(SPATA22):c.-74+19047_-74+19048del rs1057516498
NM_032316.3(NICN1):c.*2307G>C rs544461335
NM_032316.3(NICN1):c.*2317A>G rs1553638927
NM_032316.3(NICN1):c.*2325C>T rs753743263

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