ClinVar Miner

List of variants in gene combination CATIP, PNKD reported as uncertain significance for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_015488.5(PNKD):c.*155C>T rs753020574 0.00054
NM_015488.5(PNKD):c.*1490G>A rs971155594 0.00041
NM_015488.5(PNKD):c.281G>A (p.Arg94Gln) rs140941237 0.00016
NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly) rs185906233 0.00014
NM_015488.5(PNKD):c.964C>T (p.Arg322Trp) rs751050132 0.00013
NM_015488.5(PNKD):c.*1118T>A rs762512024 0.00012
NM_015488.5(PNKD):c.*868T>C rs998136972 0.00011
NM_015488.5(PNKD):c.*826G>T rs772338538 0.00010
NM_015488.5(PNKD):c.839G>T (p.Gly280Val) rs766132328 0.00009
NM_015488.5(PNKD):c.665G>A (p.Arg222Gln) rs777574834 0.00008
NM_015488.5(PNKD):c.1120G>A (p.Glu374Lys) rs936912635 0.00007
NM_015488.5(PNKD):c.664C>T (p.Arg222Trp) rs758297049 0.00007
NM_015488.5(PNKD):c.984+1G>A rs577027430 0.00007
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala) rs202190131 0.00006
NM_015488.5(PNKD):c.384G>A (p.Ser128=) rs544137720 0.00006
NM_015488.5(PNKD):c.785G>A (p.Arg262Gln) rs759669801 0.00006
NM_015488.5(PNKD):c.833T>G (p.Val278Gly) rs1220987446 0.00006
NM_015488.5(PNKD):c.973C>T (p.Arg325Cys) rs149750691 0.00006
NM_015488.5(PNKD):c.984G>A (p.Thr328=) rs371356115 0.00006
NM_015488.5(PNKD):c.559C>T (p.Arg187Trp) rs375550686 0.00005
NM_015488.5(PNKD):c.983C>T (p.Thr328Met) rs780464180 0.00005
NM_015488.5(PNKD):c.1010G>A (p.Arg337His) rs374137801 0.00004
NM_015488.5(PNKD):c.1094A>T (p.Asp365Val) rs754318977 0.00004
NM_015488.5(PNKD):c.1103G>A (p.Arg368Gln) rs372191275 0.00004
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp) rs533033409 0.00004
NM_015488.5(PNKD):c.869-5G>A rs375416202 0.00004
NM_015488.5(PNKD):c.*206C>T rs886055622 0.00003
NM_015488.5(PNKD):c.1090G>A (p.Asp364Asn) rs766821861 0.00003
NM_015488.5(PNKD):c.1126C>T (p.Arg376Cys) rs200042352 0.00003
NM_015488.5(PNKD):c.299C>T (p.Ala100Val) rs374645683 0.00003
NM_015488.5(PNKD):c.302G>A (p.Arg101Gln) rs368934552 0.00003
NM_015488.5(PNKD):c.877T>C (p.Tyr293His) rs368638126 0.00003
NM_015488.5(PNKD):c.932G>A (p.Arg311Gln) rs61745358 0.00003
NM_015488.5(PNKD):c.*1216G>A rs999439159 0.00002
NM_015488.5(PNKD):c.*253C>T rs1456301565 0.00002
NM_015488.5(PNKD):c.1129C>T (p.Arg377Trp) rs377569724 0.00002
NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln) rs148141539 0.00002
NM_015488.5(PNKD):c.341G>A (p.Arg114His) rs781140528 0.00002
NM_015488.5(PNKD):c.409G>A (p.Asp137Asn) rs139792709 0.00002
NM_015488.5(PNKD):c.454C>T (p.Arg152Trp) rs756863425 0.00002
NM_015488.5(PNKD):c.557G>A (p.Arg186Gln) rs143162613 0.00002
NM_015488.5(PNKD):c.597C>T (p.Asp199=) rs139122042 0.00002
NM_015488.5(PNKD):c.673G>A (p.Ala225Thr) rs1459728761 0.00002
NM_015488.5(PNKD):c.698A>G (p.His233Arg) rs994484237 0.00002
NM_015488.5(PNKD):c.970G>T (p.Glu324Ter) rs781505065 0.00002
NM_015488.5(PNKD):c.*1476A>G rs886055623 0.00001
NM_015488.5(PNKD):c.*1569C>T rs1694830978 0.00001
NM_015488.5(PNKD):c.*838C>T rs560187472 0.00001
NM_015488.5(PNKD):c.1006G>T (p.Glu336Ter) rs754136722 0.00001
NM_015488.5(PNKD):c.1067C>T (p.Pro356Leu) rs1553516179 0.00001
NM_015488.5(PNKD):c.1073C>T (p.Pro358Leu) rs1161443837 0.00001
NM_015488.5(PNKD):c.1105G>T (p.Ala369Ser) rs1233192096 0.00001
NM_015488.5(PNKD):c.1112T>C (p.Leu371Pro) rs777859269 0.00001
NM_015488.5(PNKD):c.1127G>A (p.Arg376His) rs781473009 0.00001
NM_015488.5(PNKD):c.1146C>G (p.His382Gln) rs1157053840 0.00001
NM_015488.5(PNKD):c.1153A>G (p.Lys385Glu) rs1299480252 0.00001
NM_015488.5(PNKD):c.253C>T (p.Arg85Cys) rs769375770 0.00001
NM_015488.5(PNKD):c.280C>T (p.Arg94Ter) rs754138242 0.00001
NM_015488.5(PNKD):c.307C>T (p.Arg103Cys) rs1157911601 0.00001
NM_015488.5(PNKD):c.308G>A (p.Arg103His) rs768336954 0.00001
NM_015488.5(PNKD):c.326C>T (p.Ser109Leu) rs985467569 0.00001
NM_015488.5(PNKD):c.370A>G (p.Ile124Val) rs909331529 0.00001
NM_015488.5(PNKD):c.383C>T (p.Ser128Leu) rs200782799 0.00001
NM_015488.5(PNKD):c.391T>C (p.Tyr131His) rs1353463061 0.00001
NM_015488.5(PNKD):c.404T>C (p.Ile135Thr) rs1292612483 0.00001
NM_015488.5(PNKD):c.419C>T (p.Ala140Val) rs766237012 0.00001
NM_015488.5(PNKD):c.431T>G (p.Val144Gly) rs533028105 0.00001
NM_015488.5(PNKD):c.476A>T (p.Glu159Val) rs758928375 0.00001
NM_015488.5(PNKD):c.499G>A (p.Ala167Thr) rs1219443955 0.00001
NM_015488.5(PNKD):c.533G>A (p.Ser178Asn) rs147885219 0.00001
NM_015488.5(PNKD):c.544C>T (p.Arg182Cys) rs1401462536 0.00001
NM_015488.5(PNKD):c.551T>C (p.Leu184Pro) rs1243303171 0.00001
NM_015488.5(PNKD):c.574C>T (p.Arg192Trp) rs758791360 0.00001
NM_015488.5(PNKD):c.583G>A (p.Gly195Arg) rs554148467 0.00001
NM_015488.5(PNKD):c.618T>A (p.His206Gln) rs776176020 0.00001
NM_015488.5(PNKD):c.646G>A (p.Val216Met) rs771841680 0.00001
NM_015488.5(PNKD):c.679C>G (p.Pro227Ala) rs1360064508 0.00001
NM_015488.5(PNKD):c.691C>A (p.Gln231Lys) rs781010423 0.00001
NM_015488.5(PNKD):c.708C>A (p.Tyr236Ter) rs1025922436 0.00001
NM_015488.5(PNKD):c.754G>T (p.Gly252Trp) rs1166017790 0.00001
NM_015488.5(PNKD):c.781+5G>C rs757255934 0.00001
NM_015488.5(PNKD):c.782-7C>G rs773884627 0.00001
NM_015488.5(PNKD):c.784C>T (p.Arg262Trp) rs777091882 0.00001
NM_015488.5(PNKD):c.854C>A (p.Thr285Asn) rs754573542 0.00001
NM_015488.5(PNKD):c.915G>C (p.Glu305Asp) rs201068431 0.00001
NM_015488.5(PNKD):c.931C>T (p.Arg311Trp) rs761896240 0.00001
NM_015488.5(PNKD):c.955C>T (p.Gln319Ter) rs765048900 0.00001
NM_015488.5(PNKD):c.958C>T (p.Arg320Trp) rs1009710207 0.00001
NM_015488.5(PNKD):c.965G>A (p.Arg322Gln) rs756826546 0.00001
NM_015488.5(PNKD):c.974G>A (p.Arg325His) rs756621298 0.00001
NM_015488.5(PNKD):c.998T>G (p.Leu333Arg) rs1005386085 0.00001
NM_015488.5(PNKD):c.*1305A>G rs1694825559
NM_015488.5(PNKD):c.*212G>A rs989494170
NM_015488.5(PNKD):c.*679C>T rs1694809581
NM_015488.5(PNKD):c.1006G>A (p.Glu336Lys)
NM_015488.5(PNKD):c.1009C>T (p.Arg337Cys) rs1694784083
NM_015488.5(PNKD):c.1012T>C (p.Ser338Pro)
NM_015488.5(PNKD):c.1013_1015del (p.Ser338del)
NM_015488.5(PNKD):c.1022dup (p.Phe342fs)
NM_015488.5(PNKD):c.1036C>T (p.His346Tyr)
NM_015488.5(PNKD):c.1040G>A (p.Cys347Tyr)
NM_015488.5(PNKD):c.1046C>T (p.Ala349Val)
NM_015488.5(PNKD):c.1052A>G (p.Gln351Arg)
NM_015488.5(PNKD):c.1057G>T (p.Ala353Ser)
NM_015488.5(PNKD):c.1072C>T (p.Pro358Ser)
NM_015488.5(PNKD):c.1073del (p.Pro358fs)
NM_015488.5(PNKD):c.1078C>T (p.Pro360Ser)
NM_015488.5(PNKD):c.1079C>T (p.Pro360Leu)
NM_015488.5(PNKD):c.1081A>G (p.Thr361Ala)
NM_015488.5(PNKD):c.1091A>G (p.Asp364Gly)
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp) rs185906233
NM_015488.5(PNKD):c.1108C>T (p.Gln370Ter)
NM_015488.5(PNKD):c.1115T>C (p.Leu372Pro) rs1694789383
NM_015488.5(PNKD):c.1115T>G (p.Leu372Arg)
NM_015488.5(PNKD):c.1117G>A (p.Glu373Lys)
NM_015488.5(PNKD):c.1135A>T (p.Lys379Ter) rs1694790443
NM_015488.5(PNKD):c.1148del (p.Lys383fs) rs1574724140
NM_015488.5(PNKD):c.1150A>T (p.Ser384Cys) rs765841531
NM_015488.5(PNKD):c.1152C>T (p.Ser384=)
NM_015488.5(PNKD):c.237-10C>A
NM_015488.5(PNKD):c.243C>G (p.Ser81Arg) rs540125259
NM_015488.5(PNKD):c.251C>T (p.Thr84Ile)
NM_015488.5(PNKD):c.257C>T (p.Thr86Ile)
NM_015488.5(PNKD):c.266G>C (p.Gly89Ala)
NM_015488.5(PNKD):c.268dup (p.Tyr90fs) rs2106292758
NM_015488.5(PNKD):c.292C>A (p.Arg98Ser)
NM_015488.5(PNKD):c.293G>A (p.Arg98His) rs201495280
NM_015488.5(PNKD):c.293G>T (p.Arg98Leu) rs201495280
NM_015488.5(PNKD):c.302G>C (p.Arg101Pro) rs368934552
NM_015488.5(PNKD):c.311A>T (p.Tyr104Phe)
NM_015488.5(PNKD):c.312C>A (p.Tyr104Ter)
NM_015488.5(PNKD):c.312_316del (p.Tyr104_Lys106delinsTer)
NM_015488.5(PNKD):c.314C>T (p.Pro105Leu)
NM_015488.5(PNKD):c.318A>T (p.Lys106Asn) rs1421249273
NM_015488.5(PNKD):c.320G>C (p.Gly107Ala) rs2106292830
NM_015488.5(PNKD):c.320G>T (p.Gly107Val) rs2106292830
NM_015488.5(PNKD):c.322C>A (p.His108Asn) rs1694617621
NM_015488.5(PNKD):c.348C>G (p.Phe116Leu) rs1437287362
NM_015488.5(PNKD):c.353-2A>G
NM_015488.5(PNKD):c.353-9T>G rs2106293111
NM_015488.5(PNKD):c.356T>C (p.Val119Ala)
NM_015488.5(PNKD):c.359A>G (p.Lys120Arg)
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu) rs1694626257
NM_015488.5(PNKD):c.369del (p.Ile124fs)
NM_015488.5(PNKD):c.369dup (p.Ile124fs)
NM_015488.5(PNKD):c.371T>A (p.Ile124Asn) rs762861678
NM_015488.5(PNKD):c.371T>C (p.Ile124Thr) rs762861678
NM_015488.5(PNKD):c.382T>C (p.Ser128Pro)
NM_015488.5(PNKD):c.392A>G (p.Tyr131Cys)
NM_015488.5(PNKD):c.408C>G (p.Ile136Met) rs763052723
NM_015488.5(PNKD):c.415C>G (p.Gln139Glu)
NM_015488.5(PNKD):c.415C>T (p.Gln139Ter) rs372675235
NM_015488.5(PNKD):c.427G>A (p.Ala143Thr) rs754958157
NM_015488.5(PNKD):c.427G>C (p.Ala143Pro)
NM_015488.5(PNKD):c.427G>T (p.Ala143Ser)
NM_015488.5(PNKD):c.428C>G (p.Ala143Gly)
NM_015488.5(PNKD):c.436G>A (p.Val146Met)
NM_015488.5(PNKD):c.441C>G (p.Asp147Glu)
NM_015488.5(PNKD):c.442C>G (p.Pro148Ala) rs545078283
NM_015488.5(PNKD):c.448G>T (p.Asp150Tyr)
NM_015488.5(PNKD):c.465+2T>G rs1230004320
NM_015488.5(PNKD):c.465+3G>A rs1313298373
NM_015488.5(PNKD):c.465G>C (p.Gln155His)
NM_015488.5(PNKD):c.466-5C>G rs745435962
NM_015488.5(PNKD):c.466-9C>G
NM_015488.5(PNKD):c.479A>G (p.Lys160Arg) rs1694648277
NM_015488.5(PNKD):c.481G>A (p.Glu161Lys)
NM_015488.5(PNKD):c.490A>G (p.Thr164Ala) rs2106294008
NM_015488.5(PNKD):c.500C>T (p.Ala167Val) rs2106294018
NM_015488.5(PNKD):c.505C>A (p.Leu169Met) rs2106294020
NM_015488.5(PNKD):c.526G>A (p.Asp176Asn) rs1553674143
NM_015488.5(PNKD):c.528C>A (p.Asp176Glu)
NM_015488.5(PNKD):c.532A>C (p.Ser178Arg)
NM_015488.5(PNKD):c.533G>C (p.Ser178Thr)
NM_015488.5(PNKD):c.536G>T (p.Gly179Val) rs1694676356
NM_015488.5(PNKD):c.538G>A (p.Gly180Arg) rs1694676419
NM_015488.5(PNKD):c.545G>A (p.Arg182His)
NM_015488.5(PNKD):c.554G>C (p.Ser185Thr)
NM_015488.5(PNKD):c.556C>T (p.Arg186Trp)
NM_015488.5(PNKD):c.566G>T (p.Arg189Leu) rs199987826
NM_015488.5(PNKD):c.568G>A (p.Asp190Asn) rs1256960832
NM_015488.5(PNKD):c.568G>T (p.Asp190Tyr)
NM_015488.5(PNKD):c.575G>A (p.Arg192Gln)
NM_015488.5(PNKD):c.585del (p.Ser196fs) rs761519363
NM_015488.5(PNKD):c.587G>C (p.Ser196Thr) rs1341663022
NM_015488.5(PNKD):c.595G>A (p.Asp199Asn) rs1694679310
NM_015488.5(PNKD):c.599G>C (p.Gly200Ala)
NM_015488.5(PNKD):c.610C>G (p.Leu204Val)
NM_015488.5(PNKD):c.614C>A (p.Thr205Asn)
NM_015488.5(PNKD):c.617+5G>C rs1553674205
NM_015488.5(PNKD):c.628C>A (p.His210Asn) rs886055620
NM_015488.5(PNKD):c.630T>G (p.His210Gln) rs1694691035
NM_015488.5(PNKD):c.637G>A (p.Val213Met)
NM_015488.5(PNKD):c.641_649del (p.Val214_Val216del) rs1694691273
NM_015488.5(PNKD):c.652C>T (p.Arg218Trp) rs34745867
NM_015488.5(PNKD):c.658C>G (p.Gln220Glu)
NM_015488.5(PNKD):c.667G>A (p.Ala223Thr)
NM_015488.5(PNKD):c.692A>C (p.Gln231Pro) rs1694693946
NM_015488.5(PNKD):c.693del (p.Gly232fs) rs773192502
NM_015488.5(PNKD):c.716A>T (p.Asp239Val) rs1553674341
NM_015488.5(PNKD):c.718G>A (p.Gly240Arg)
NM_015488.5(PNKD):c.724C>T (p.Pro242Ser) rs1694695921
NM_015488.5(PNKD):c.733G>T (p.Gly245Cys) rs769143232
NM_015488.5(PNKD):c.745C>T (p.Leu249Phe) rs1199556893
NM_015488.5(PNKD):c.758A>T (p.Asp253Val)
NM_015488.5(PNKD):c.768C>A (p.Phe256Leu)
NM_015488.5(PNKD):c.770T>C (p.Leu257Pro)
NM_015488.5(PNKD):c.773C>T (p.Ser258Phe) rs777714592
NM_015488.5(PNKD):c.793G>A (p.Glu265Lys)
NM_015488.5(PNKD):c.795G>T (p.Glu265Asp)
NM_015488.5(PNKD):c.801T>G (p.Asn267Lys)
NM_015488.5(PNKD):c.827A>C (p.Asp276Ala)
NM_015488.5(PNKD):c.833_834del (p.Val278fs)
NM_015488.5(PNKD):c.839G>A (p.Gly280Glu) rs766132328
NM_015488.5(PNKD):c.841C>A (p.Leu281Ile)
NM_015488.5(PNKD):c.857T>C (p.Leu286Pro)
NM_015488.5(PNKD):c.864G>A (p.Trp288Ter)
NM_015488.5(PNKD):c.872A>C (p.His291Pro)
NM_015488.5(PNKD):c.876G>C (p.Glu292Asp)
NM_015488.5(PNKD):c.876G>T (p.Glu292Asp)
NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys) rs1694770280
NM_015488.5(PNKD):c.902C>T (p.Ala301Val) rs2106298348
NM_015488.5(PNKD):c.905G>A (p.Gly302Asp)
NM_015488.5(PNKD):c.910G>A (p.Val304Met)
NM_015488.5(PNKD):c.916C>T (p.Pro306Ser) rs1247054660
NM_015488.5(PNKD):c.926T>C (p.Leu309Pro)
NM_015488.5(PNKD):c.931C>G (p.Arg311Gly)
NM_015488.5(PNKD):c.937A>T (p.Arg313Trp) rs2106298400
NM_015488.5(PNKD):c.949T>C (p.Trp317Arg)
NM_015488.5(PNKD):c.953T>G (p.Val318Gly)
NM_015488.5(PNKD):c.958C>G (p.Arg320Gly)
NM_015488.5(PNKD):c.962A>G (p.Gln321Arg)
NM_015488.5(PNKD):c.978G>A (p.Lys326=)
NM_015488.5(PNKD):c.982A>T (p.Thr328Ser) rs1225358282
NM_015488.5(PNKD):c.984+2T>G
NM_015488.5(PNKD):c.985-1G>C rs1694783221
NM_015488.5(PNKD):c.989C>T (p.Pro330Leu)
NM_015488.5(PNKD):c.994A>G (p.Thr332Ala)
NM_015488.5(PNKD):c.999G>A (p.Leu333=)

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