ClinVar Miner

List of variants in gene PNKP reported as uncertain significance by Invitae

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Total variants: 97
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HGVS dbSNP
NM_007254.3(PNKP):c.1188+8delC rs763782151
NM_007254.3(PNKP):c.1288_1298+6dup rs1555810844
NM_007254.3(PNKP):c.1387-3_1387-2delCA rs760066611
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val)
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys)
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg)
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg)
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys)
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu)
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser)
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1125G>T (p.Gly375=)
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079
NM_007254.4(PNKP):c.1165G>A (p.Ala389Thr)
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674
NM_007254.4(PNKP):c.1211G>A (p.Arg404His)
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro)
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys) rs774130130
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150
NM_007254.4(PNKP):c.1235C>T (p.Ala412Val) rs1060502500
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup)
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060
NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu) rs1568659063
NM_007254.4(PNKP):c.1286C>T (p.Ala429Val) rs769707108
NM_007254.4(PNKP):c.1292G>A (p.Arg431His)
NM_007254.4(PNKP):c.1298+6G>A rs578207030
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1321G>A (p.Ala441Thr) rs1351594110
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn) rs1455514180
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val)
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281
NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu)
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln) rs774739756
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp)
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys)
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp)
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln) rs374743798
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.4(PNKP):c.199-8_199-5del
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile)
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile)
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706
NM_007254.4(PNKP):c.313C>T (p.Arg105Cys)
NM_007254.4(PNKP):c.329G>A (p.Arg110His) rs867937617
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg) rs567905136
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp)
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu)
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys)
NM_007254.4(PNKP):c.539G>A (p.Arg180His) rs779492301
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu)
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.611G>A (p.Arg204Gln)
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala)
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys)
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys)
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del)
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.830C>T (p.Thr277Met) rs1453288814
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn) rs1555811171
NM_007254.4(PNKP):c.961T>C (p.Phe321Leu) rs1210892846
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574

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