ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 1A by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level:
ClinVar version:
Total variants: 451
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HGVS dbSNP gnomAD frequency
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) rs61736727 0.00098
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_003384.3(VRK1):c.183A>C (p.Ser61=) rs150196318 0.00029
NM_003384.3(VRK1):c.1160G>A (p.Arg387His) rs1420939606 0.00021
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_003384.3(VRK1):c.216+8A>G rs369680885 0.00016
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_003384.3(VRK1):c.810T>C (p.Tyr270=) rs943810223 0.00016
NM_003384.3(VRK1):c.906C>T (p.Tyr302=) rs528346065 0.00016
NM_003384.3(VRK1):c.759A>G (p.Gln253=) rs150534939 0.00012
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr) rs371024271 0.00011
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_003384.3(VRK1):c.216+19A>G rs200465413 0.00009
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg) rs149350224 0.00009
NM_003384.3(VRK1):c.1005T>C (p.Asp335=) rs948151259 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_003384.3(VRK1):c.286+20T>C rs756827476 0.00006
NM_003384.3(VRK1):c.576+8T>C rs368495945 0.00006
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser) rs369310409 0.00006
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln) rs1412431442 0.00005
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val) rs147604836 0.00004
NM_003384.3(VRK1):c.1170C>G (p.Thr390=) rs776701715 0.00004
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu) rs777028935 0.00004
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln) rs536881543 0.00004
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys) rs769507445 0.00004
NM_003384.3(VRK1):c.663C>T (p.His221=) rs376006178 0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala) rs199759408 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003384.3(VRK1):c.577-19G>C rs781055432 0.00003
NM_003384.3(VRK1):c.882C>T (p.Asn294=) rs541660707 0.00003
NM_003384.3(VRK1):c.1065A>C (p.Thr355=) rs765863043 0.00002
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter) rs184887106 0.00002
NM_003384.3(VRK1):c.1164A>C (p.Ser388=) rs760801260 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala) rs756589419 0.00002
NM_003384.3(VRK1):c.26C>T (p.Ala9Val) rs771269721 0.00002
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys) rs755450815 0.00002
NM_003384.3(VRK1):c.308G>A (p.Arg103His) rs779386449 0.00002
NM_003384.3(VRK1):c.327T>G (p.Gly109=) rs560242666 0.00002
NM_003384.3(VRK1):c.39C>T (p.Ser13=) rs759767615 0.00002
NM_003384.3(VRK1):c.462C>T (p.Val154=) rs757654085 0.00002
NM_003384.3(VRK1):c.1011C>A (p.Gly337=) rs547821991 0.00001
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln) rs145241983 0.00001
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs) rs892468166 0.00001
NM_003384.3(VRK1):c.1143G>A (p.Glu381=) rs745392801 0.00001
NM_003384.3(VRK1):c.1159+5G>C rs372052354 0.00001
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys) rs149083861 0.00001
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys) rs766501031 0.00001
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg) rs759541730 0.00001
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile) rs1392561922 0.00001
NM_003384.3(VRK1):c.127A>G (p.Ile43Val) rs777420974 0.00001
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg) rs1372198425 0.00001
NM_003384.3(VRK1):c.144T>C (p.Phe48=) rs1887099492 0.00001
NM_003384.3(VRK1):c.151A>G (p.Ile51Val) rs1237038231 0.00001
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu) rs1474265077 0.00001
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr) rs768889718 0.00001
NM_003384.3(VRK1):c.264A>G (p.Gln88=) rs200368952 0.00001
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.279A>T (p.Pro93=) rs765294511 0.00001
NM_003384.3(VRK1):c.286+18C>T rs370335226 0.00001
NM_003384.3(VRK1):c.302G>A (p.Arg101His) rs372646027 0.00001
NM_003384.3(VRK1):c.345G>T (p.Gly115=) rs747216954 0.00001
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg) rs1064796973 0.00001
NM_003384.3(VRK1):c.366T>C (p.Asn122=) rs781389131 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys) rs201936978 0.00001
NM_003384.3(VRK1):c.484-4A>G rs572434615 0.00001
NM_003384.3(VRK1):c.507C>T (p.His169=) rs773548929 0.00001
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr) rs1888016669 0.00001
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe) rs1452833653 0.00001
NM_003384.3(VRK1):c.576+9A>G rs978347799 0.00001
NM_003384.3(VRK1):c.577-4A>G rs1194395636 0.00001
NM_003384.3(VRK1):c.583T>G (p.Leu195Val) rs779770049 0.00001
NM_003384.3(VRK1):c.588A>T (p.Val196=) rs1387075963 0.00001
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp) rs144600646 0.00001
NM_003384.3(VRK1):c.618A>G (p.Pro206=) rs773555796 0.00001
NM_003384.3(VRK1):c.639C>T (p.Tyr213=) rs1217274457 0.00001
NM_003384.3(VRK1):c.66A>G (p.Gln22=) rs146973955 0.00001
NM_003384.3(VRK1):c.699C>T (p.His233=) rs1372315924 0.00001
NM_003384.3(VRK1):c.6del (p.Arg3fs) rs780789145 0.00001
NM_003384.3(VRK1):c.709+10T>C rs1468277298 0.00001
NM_003384.3(VRK1):c.709+9G>A rs1202671679 0.00001
NM_003384.3(VRK1):c.710-14T>C rs1275418589 0.00001
NM_003384.3(VRK1):c.710-9C>A rs757724286 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_003384.3(VRK1):c.726T>C (p.Gly242=) rs562273268 0.00001
NM_003384.3(VRK1):c.72A>C (p.Ala24=) rs147698530 0.00001
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln) rs1200170208 0.00001
NM_003384.3(VRK1):c.772C>T (p.His258Tyr) rs761905254 0.00001
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys) rs747692654 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_003384.3(VRK1):c.82A>G (p.Ile28Val) rs1210199221 0.00001
NM_003384.3(VRK1):c.830+10A>G rs544437757 0.00001
NM_003384.3(VRK1):c.831-12A>G rs1555361641 0.00001
NM_003384.3(VRK1):c.831-18T>A rs746301651 0.00001
NM_003384.3(VRK1):c.846T>C (p.Ile282=) rs759546376 0.00001
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly) rs1449338678 0.00001
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg) rs1310616396 0.00001
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg) rs1340163417 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_003384.3(VRK1):c.889+4G>C rs761286112 0.00001
NM_003384.3(VRK1):c.966C>T (p.Asp322=) rs1302769997 0.00001
NM_003384.3(VRK1):c.99A>C (p.Ala33=) rs1461516851 0.00001
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer) rs752086581 0.00001
NC_000014.8:g.(?_97277006)_(97347545_?)del
NC_000014.8:g.(?_97299809)_(97327092_?)del
NC_000014.8:g.(?_97313625)_(97324868_?)del
NC_000014.8:g.(?_97319158)_(97322933_?)del
NC_000014.8:g.(?_97319190)_(97325994_?)del
NC_000014.8:g.(?_97326874)_(97327092_?)del
NC_000014.8:g.(?_97342347)_(97347545_?)del
NC_000014.9:g.(?_96846085)_(96847354_?)del
NM_003384.3(VRK1):c.-5-146A>G
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu) rs1261157260
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly) rs1888350254
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val) rs1888350254
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg) rs779911846
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro) rs1566713262
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
NM_003384.3(VRK1):c.1038T>C (p.Asn346=) rs2139815079
NM_003384.3(VRK1):c.103_104del (p.Lys35fs) rs2139748811
NM_003384.3(VRK1):c.1056A>G (p.Lys352=) rs2139815109
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_003384.3(VRK1):c.1059A>C (p.Thr353=) rs1226336700
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1068+10G>A
NM_003384.3(VRK1):c.1068+17_1068+21del
NM_003384.3(VRK1):c.1068+20T>C
NM_003384.3(VRK1):c.1068+20T>G
NM_003384.3(VRK1):c.1068+9T>C
NM_003384.3(VRK1):c.1069-12T>G
NM_003384.3(VRK1):c.1069-17T>C
NM_003384.3(VRK1):c.1069-17T>G
NM_003384.3(VRK1):c.1069-19_1069-16del
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1069-6T>C rs1889016062
NM_003384.3(VRK1):c.1069-9A>T
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
NM_003384.3(VRK1):c.1086T>C (p.Ile362=) rs2139845833
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs) rs2139845849
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg) rs2139748832
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg) rs1470768259
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala) rs1168205465
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter) rs2139748841
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs) rs2139845924
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro) rs199759408
NM_003384.3(VRK1):c.1119G>A (p.Thr373=) rs777515325
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg) rs1595691599
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs) rs1889019962
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
NM_003384.3(VRK1):c.1146G>A (p.Glu382=) rs1889020417
NM_003384.3(VRK1):c.1149C>T (p.Ala383=) rs1257711610
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
NM_003384.3(VRK1):c.1159+10A>G rs756764690
NM_003384.3(VRK1):c.1159+11C>T
NM_003384.3(VRK1):c.1159+18G>T
NM_003384.3(VRK1):c.1159+1G>A rs774877872
NM_003384.3(VRK1):c.1160-14G>C
NM_003384.3(VRK1):c.1160-2A>G rs199916225
NM_003384.3(VRK1):c.1160-4C>G
NM_003384.3(VRK1):c.1160-4C>T
NM_003384.3(VRK1):c.1160-5T>C rs2139857584
NM_003384.3(VRK1):c.1160-7C>T rs1251234541
NM_003384.3(VRK1):c.1160-7del
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.1161T>C (p.Arg387=) rs1196862965
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
NM_003384.3(VRK1):c.12A>T (p.Val4=)
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
NM_003384.3(VRK1):c.150T>C (p.Cys50=) rs747562164
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter) rs1887100431
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
NM_003384.3(VRK1):c.160+1G>T rs2139749072
NM_003384.3(VRK1):c.160+1del
NM_003384.3(VRK1):c.161-10T>C
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.161-6A>T
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.179_180del (p.Glu60fs) rs2139759363
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
NM_003384.3(VRK1):c.184G>A (p.Val62Ile) rs1555360117
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.216+9T>C
NM_003384.3(VRK1):c.217-10A>G rs2139778948
NM_003384.3(VRK1):c.217-10dup
NM_003384.3(VRK1):c.217-12T>C
NM_003384.3(VRK1):c.217-14T>C
NM_003384.3(VRK1):c.217-3A>G rs1009112116
NM_003384.3(VRK1):c.217-7T>C rs2139778978
NM_003384.3(VRK1):c.217-8_217-7del
NM_003384.3(VRK1):c.217-9T>C rs529433051
NM_003384.3(VRK1):c.217-9del rs2139778965
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
NM_003384.3(VRK1):c.222del (p.Ser75fs) rs2139779014
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
NM_003384.3(VRK1):c.238C>G (p.Leu80Val) rs2139779081
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys) rs2139779137
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
NM_003384.3(VRK1):c.261C>T (p.Tyr87=) rs748309797
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro) rs1887677369
NM_003384.3(VRK1):c.286+11C>A
NM_003384.3(VRK1):c.286+11C>T
NM_003384.3(VRK1):c.286+15A>G
NM_003384.3(VRK1):c.287-11T>C
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.287-4G>A rs1395180911
NM_003384.3(VRK1):c.287-4G>T rs1395180911
NM_003384.3(VRK1):c.287-7T>C
NM_003384.3(VRK1):c.287-8_287-7delinsTA rs1064795545
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
NM_003384.3(VRK1):c.306C>G (p.Thr102=) rs1326352230
NM_003384.3(VRK1):c.312G>A (p.Lys104=) rs1269621133
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
NM_003384.3(VRK1):c.330T>C (p.Val110=)
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
NM_003384.3(VRK1):c.362_365del (p.Lys121fs) rs772146380
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly) rs1887746110
NM_003384.3(VRK1):c.374+15G>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.374+7A>T
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-10T>C rs2139795498
NM_003384.3(VRK1):c.375-12A>G
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.375-19T>C
NM_003384.3(VRK1):c.375-4T>C
NM_003384.3(VRK1):c.378C>T (p.Tyr126=) rs1344283744
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp) rs1888003676
NM_003384.3(VRK1):c.381G>A (p.Arg127=) rs2139795531
NM_003384.3(VRK1):c.387dup (p.Ile130fs) rs2139795550
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
NM_003384.3(VRK1):c.396T>C (p.Asp132=) rs2139795583
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu) rs764788560
NM_003384.3(VRK1):c.426T>C (p.Tyr142=) rs2139795639
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu) rs1888005284
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
NM_003384.3(VRK1):c.456A>G (p.Lys152=) rs2139795727
NM_003384.3(VRK1):c.459T>C (p.Thr153=) rs145911601
NM_003384.3(VRK1):c.462C>A (p.Val154=) rs757654085
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu) rs763034734
NM_003384.3(VRK1):c.471A>C (p.Leu157=) rs2139795805
NM_003384.3(VRK1):c.474C>T (p.Ser158=) rs2139795825
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser) rs888338488
NM_003384.3(VRK1):c.483+10_483+23del rs1888009081
NM_003384.3(VRK1):c.483+12A>G
NM_003384.3(VRK1):c.483+15T>A
NM_003384.3(VRK1):c.483+17C>G
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.483+20_483+22del rs566207500
NM_003384.3(VRK1):c.483+20dup
NM_003384.3(VRK1):c.483+8A>G rs2139795917
NM_003384.3(VRK1):c.483T>A (p.Ile161=) rs1888008625
NM_003384.3(VRK1):c.484-15A>T
NM_003384.3(VRK1):c.484-16T>C
NM_003384.3(VRK1):c.484-18T>C
NM_003384.3(VRK1):c.484-18T>G
NM_003384.3(VRK1):c.484-5C>T
NM_003384.3(VRK1):c.484-6T>G
NM_003384.3(VRK1):c.484-6dup rs2139796250
NM_003384.3(VRK1):c.495G>C (p.Leu165=) rs2139796298
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
NM_003384.3(VRK1):c.513T>C (p.His171=) rs2139796362
NM_003384.3(VRK1):c.516G>A (p.Glu172=) rs2139796370
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg) rs888762581
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup) rs2139796397
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg) rs1566708080
NM_003384.3(VRK1):c.537G>A (p.Lys179=) rs1888016926
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer) rs2139796429
NM_003384.3(VRK1):c.544A>C (p.Asn182His) rs745552947
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del) rs774219368
NM_003384.3(VRK1):c.549T>C (p.Leu183=) rs1888017489
NM_003384.3(VRK1):c.551T>A (p.Leu184His) rs1888017746
NM_003384.3(VRK1):c.555G>C (p.Leu185=) rs2139796508
NM_003384.3(VRK1):c.561C>T (p.Tyr187=) rs2139796518
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
NM_003384.3(VRK1):c.576+11A>G
NM_003384.3(VRK1):c.576+18A>G
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.577-11del
NM_003384.3(VRK1):c.577-16G>C
NM_003384.3(VRK1):c.577-18G>A
NM_003384.3(VRK1):c.577-18G>T
NM_003384.3(VRK1):c.577-18del rs759260596
NM_003384.3(VRK1):c.577-5T>C
NM_003384.3(VRK1):c.57T>C (p.Leu19=) rs2139748645
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe) rs748878251
NM_003384.3(VRK1):c.586G>C (p.Val196Leu) rs372089106
NM_003384.3(VRK1):c.588A>G (p.Val196=) rs1387075963
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
NM_003384.3(VRK1):c.603T>G (p.Ala201=) rs1157448476
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
NM_003384.3(VRK1):c.609G>C (p.Arg203=) rs1298227038
NM_003384.3(VRK1):c.615C>T (p.Cys205=) rs772730428
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
NM_003384.3(VRK1):c.636A>G (p.Glu212=) rs776975502
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.648C>T (p.Asp216=) rs765348075
NM_003384.3(VRK1):c.651C>G (p.Pro217=) rs2139801938
NM_003384.3(VRK1):c.651C>T (p.Pro217=) rs2139801938
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter) rs2139801958
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) rs762979613
NM_003384.3(VRK1):c.660T>C (p.Cys220=) rs762979613
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp) rs1555361508
NM_003384.3(VRK1):c.668G>T (p.Gly223Val) rs1555361508
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
NM_003384.3(VRK1):c.684G>A (p.Thr228=) rs753585913
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
NM_003384.3(VRK1):c.690C>T (p.Ile230=) rs747694940
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly) rs757917768
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser) rs2139802156
NM_003384.3(VRK1):c.705C>G (p.Gly235=) rs2230532
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.709+12G>A
NM_003384.3(VRK1):c.709+13T>A
NM_003384.3(VRK1):c.709+14A>G
NM_003384.3(VRK1):c.709+17G>A
NM_003384.3(VRK1):c.709+18G>T
NM_003384.3(VRK1):c.709+7_709+12dup
NM_003384.3(VRK1):c.709+8A>G
NM_003384.3(VRK1):c.710-13C>G
NM_003384.3(VRK1):c.710-15C>G rs757988438
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.710-8A>G rs781693457
NM_003384.3(VRK1):c.710-9C>T
NM_003384.3(VRK1):c.711C>T (p.Ala237=) rs2139803845
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter) rs1200170208
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro) rs1478722226
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp) rs1888144387
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg) rs768822328
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
NM_003384.3(VRK1):c.768T>C (p.Thr256=) rs2139804008
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_003384.3(VRK1):c.779del (p.Pro260fs)
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter) rs2139804073
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu) rs1888147421
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
NM_003384.3(VRK1):c.817G>C (p.Asp273His) rs1595677216
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
NM_003384.3(VRK1):c.830+12C>T
NM_003384.3(VRK1):c.830+16_830+20del
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.830+7G>A rs2139804244
NM_003384.3(VRK1):c.830+9A>G rs2139804260
NM_003384.3(VRK1):c.831-12A>T
NM_003384.3(VRK1):c.831-16C>T
NM_003384.3(VRK1):c.831-9T>C rs2139804862
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
NM_003384.3(VRK1):c.864A>G (p.Lys288=) rs1744342065
NM_003384.3(VRK1):c.881del (p.Asn294fs)
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.883_886del (p.Lys295fs) rs779282547
NM_003384.3(VRK1):c.889+10G>A
NM_003384.3(VRK1):c.889+10G>T rs1456272984
NM_003384.3(VRK1):c.889+11A>G
NM_003384.3(VRK1):c.889+14T>C
NM_003384.3(VRK1):c.889+15C>T
NM_003384.3(VRK1):c.889+18C>T
NM_003384.3(VRK1):c.889+19A>C
NM_003384.3(VRK1):c.889+1G>A rs1482696609
NM_003384.3(VRK1):c.889+20G>C rs1347150139
NM_003384.3(VRK1):c.889+20G>T rs1347150139
NM_003384.3(VRK1):c.889+8A>G
NM_003384.3(VRK1):c.889+9T>C rs1257886278
NM_003384.3(VRK1):c.890-10A>G
NM_003384.3(VRK1):c.890-15G>A
NM_003384.3(VRK1):c.890-19G>A
NM_003384.3(VRK1):c.890-19G>C
NM_003384.3(VRK1):c.890-22_890-15del
NM_003384.3(VRK1):c.890-4T>C rs2139814659
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
NM_003384.3(VRK1):c.897del (p.Ile299fs) rs2139814687
NM_003384.3(VRK1):c.8G>A (p.Arg3His) rs902439355
NM_003384.3(VRK1):c.913dup (p.Thr305fs) rs2139814734
NM_003384.3(VRK1):c.915A>G (p.Thr305=) rs1481654179
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu) rs761494436
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
NM_003384.3(VRK1):c.962G>A (p.Arg321His) rs200927943
NM_003384.3(VRK1):c.967A>G (p.Ile323Val) rs754315181
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg) rs2139814873
NM_003384.3(VRK1):c.972T>C (p.Leu324=) rs2139814880
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003384.3(VRK1):c.984A>G (p.Leu328=) rs765633672
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
NM_003384.3(VRK1):c.9T>G (p.Arg3=) rs771646609

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