ClinVar Miner

List of variants in gene combination ILK, TAF10 reported as uncertain significance for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 154
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608 0.00049
NM_004517.4(ILK):c.130G>C (p.Glu44Gln) rs145039481 0.00019
NM_004517.4(ILK):c.466G>A (p.Gly156Ser) rs199790448 0.00009
NM_004517.4(ILK):c.962A>G (p.Asn321Ser) rs570806647 0.00009
NM_004517.4(ILK):c.184G>A (p.Val62Ile) rs768146142 0.00007
NM_004517.4(ILK):c.1353C>G (p.Asp451Glu) rs1234007742 0.00006
NM_004517.4(ILK):c.580A>G (p.Asn194Asp) rs761882549 0.00005
NM_004517.4(ILK):c.337G>T (p.Asp113Tyr) rs764104201 0.00004
NM_004517.4(ILK):c.521G>A (p.Arg174His) rs192233749 0.00004
NM_004517.4(ILK):c.862G>A (p.Val288Ile) rs377702962 0.00004
NM_004517.4(ILK):c.277A>G (p.Ile93Val) rs777569798 0.00003
NM_004517.4(ILK):c.370G>T (p.Ala124Ser) rs745709169 0.00003
NM_004517.4(ILK):c.446G>A (p.Arg149Gln) rs869025437 0.00003
NM_004517.4(ILK):c.481C>T (p.Arg161Cys) rs761400440 0.00003
NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) rs869025438 0.00003
NM_004517.4(ILK):c.958C>G (p.Leu320Val) rs912510389 0.00003
NM_004517.4(ILK):c.1086G>C (p.Gln362His) rs142990615 0.00002
NM_004517.4(ILK):c.1180G>A (p.Asp394Asn) rs730880112 0.00002
NM_004517.4(ILK):c.128G>A (p.Arg43Gln) rs768217957 0.00002
NM_004517.4(ILK):c.1306C>T (p.Arg436Ter) rs1477497923 0.00002
NM_004517.4(ILK):c.1347G>A (p.Met449Ile) rs1323106962 0.00002
NM_004517.4(ILK):c.137G>A (p.Arg46His) rs370736279 0.00002
NM_004517.4(ILK):c.373C>G (p.Leu125Val) rs1305586718 0.00002
NM_004517.4(ILK):c.647A>G (p.Asp216Gly) rs576804127 0.00002
NM_004517.4(ILK):c.778C>T (p.Pro260Ser) rs750354350 0.00002
NM_006284.4(TAF10):c.*1280C>T rs750836317 0.00002
NM_004517.4(ILK):c.1022A>G (p.Lys341Arg) rs781099551 0.00001
NM_004517.4(ILK):c.1045C>T (p.Arg349Cys) rs1257537906 0.00001
NM_004517.4(ILK):c.1111C>T (p.Arg371Cys) rs759330457 0.00001
NM_004517.4(ILK):c.1112G>A (p.Arg371His) rs370480843 0.00001
NM_004517.4(ILK):c.1162C>T (p.Arg388Trp) rs776996356 0.00001
NM_004517.4(ILK):c.1210-2A>G rs748640419 0.00001
NM_004517.4(ILK):c.1307G>A (p.Arg436Gln) rs773362090 0.00001
NM_004517.4(ILK):c.1322T>G (p.Met441Arg) rs1452306438 0.00001
NM_004517.4(ILK):c.1331C>A (p.Pro444His) rs959927407 0.00001
NM_004517.4(ILK):c.1357T>C (p.Ter453Gln) rs756620800 0.00001
NM_004517.4(ILK):c.175C>T (p.Arg59Trp) rs779428507 0.00001
NM_004517.4(ILK):c.193C>T (p.Arg65Cys) rs776161614 0.00001
NM_004517.4(ILK):c.428C>T (p.Pro143Leu) rs201763536 0.00001
NM_004517.4(ILK):c.451C>T (p.Arg151Trp) rs771485363 0.00001
NM_004517.4(ILK):c.452G>A (p.Arg151Gln) rs774837228 0.00001
NM_004517.4(ILK):c.586C>G (p.Leu196Val) rs1855236652 0.00001
NM_004517.4(ILK):c.613G>A (p.Gly205Arg) rs757473698 0.00001
NM_004517.4(ILK):c.632G>A (p.Arg211His) rs200288502 0.00001
NM_004517.4(ILK):c.636G>T (p.Trp212Cys) rs758462999 0.00001
NM_004517.4(ILK):c.674G>A (p.Arg225Gln) rs1315052873 0.00001
NM_004517.4(ILK):c.721C>T (p.Arg241Trp) rs765298592 0.00001
NM_004517.4(ILK):c.757G>C (p.Val253Leu) rs1855289433 0.00001
NM_004517.4(ILK):c.799C>G (p.Leu267Val) rs1236862935 0.00001
NM_004517.4(ILK):c.968G>A (p.Arg323His) rs199652324 0.00001
NM_006284.4(TAF10):c.*1024_*1072dup rs1392922443 0.00001
NM_006284.4(TAF10):c.*2708T>C rs1440217863 0.00001
NM_004517.4(ILK):c.1001G>A (p.Arg334Gln)
NM_004517.4(ILK):c.1018G>A (p.Val340Ile) rs2134570003
NM_004517.4(ILK):c.1031T>A (p.Phe344Tyr)
NM_004517.4(ILK):c.1046G>A (p.Arg349His) rs377094824
NM_004517.4(ILK):c.1046G>T (p.Arg349Leu) rs377094824
NM_004517.4(ILK):c.1052A>G (p.Tyr351Cys) rs989434950
NM_004517.4(ILK):c.1075G>A (p.Glu359Lys)
NM_004517.4(ILK):c.1105_1108del (p.Asn369fs)
NM_004517.4(ILK):c.110C>T (p.Pro37Leu) rs2134551114
NM_004517.4(ILK):c.1123A>C (p.Met375Leu)
NM_004517.4(ILK):c.1136C>T (p.Ala379Val)
NM_004517.4(ILK):c.1149G>A (p.Trp383Ter) rs1855363075
NM_004517.4(ILK):c.1169T>C (p.Val390Ala)
NM_004517.4(ILK):c.1214C>T (p.Ala405Val) rs2134575735
NM_004517.4(ILK):c.1228C>T (p.Arg410Trp)
NM_004517.4(ILK):c.1229G>A (p.Arg410Gln)
NM_004517.4(ILK):c.1238T>A (p.Ile413Asn) rs1855399834
NM_004517.4(ILK):c.1252T>C (p.Ser418Pro) rs1554900104
NM_004517.4(ILK):c.1256C>T (p.Pro419Leu) rs1855401354
NM_004517.4(ILK):c.1258C>T (p.His420Tyr) rs1554900107
NM_004517.4(ILK):c.1270C>G (p.Leu424Val) rs2134576590
NM_004517.4(ILK):c.1275G>A (p.Met425Ile)
NM_004517.4(ILK):c.1301C>A (p.Ala434Glu) rs2134576889
NM_004517.4(ILK):c.1321_1322del (p.Met441fs) rs1855405973
NM_004517.4(ILK):c.1355A>C (p.Lys452Thr)
NM_004517.4(ILK):c.136C>T (p.Arg46Cys)
NM_004517.4(ILK):c.140C>G (p.Ser47Cys)
NM_004517.4(ILK):c.146T>C (p.Val49Ala) rs201499797
NM_004517.4(ILK):c.149T>C (p.Val50Ala)
NM_004517.4(ILK):c.151G>C (p.Glu51Gln)
NM_004517.4(ILK):c.163A>G (p.Met55Val) rs781296730
NM_004517.4(ILK):c.164_181del (p.Met55_Ile60del) rs746571606
NM_004517.4(ILK):c.169G>A (p.Gly57Arg) rs778110752
NM_004517.4(ILK):c.175C>G (p.Arg59Gly) rs779428507
NM_004517.4(ILK):c.206C>T (p.Thr69Ile) rs763031937
NM_004517.4(ILK):c.223G>C (p.Ala75Pro) rs1564845235
NM_004517.4(ILK):c.236A>T (p.His79Leu) rs1589934860
NM_004517.4(ILK):c.238C>T (p.Arg80Cys)
NM_004517.4(ILK):c.244A>G (p.Ile82Val)
NM_004517.4(ILK):c.252_255+9dup
NM_004517.4(ILK):c.264G>C (p.Gln88His)
NM_004517.4(ILK):c.266A>C (p.Tyr89Ser)
NM_004517.4(ILK):c.274G>A (p.Asp92Asn)
NM_004517.4(ILK):c.296A>C (p.His99Pro) rs1173338186
NM_004517.4(ILK):c.352G>A (p.Asp118Asn) rs2134557218
NM_004517.4(ILK):c.364A>T (p.Asn122Tyr)
NM_004517.4(ILK):c.377T>C (p.Val126Ala)
NM_004517.4(ILK):c.394T>G (p.Tyr132Asp)
NM_004517.4(ILK):c.395A>G (p.Tyr132Cys) rs776660725
NM_004517.4(ILK):c.410T>C (p.Val137Ala)
NM_004517.4(ILK):c.422A>G (p.Lys141Arg) rs187795252
NM_004517.4(ILK):c.427C>A (p.Pro143Thr)
NM_004517.4(ILK):c.436G>C (p.Glu146Gln) rs2134557984
NM_004517.4(ILK):c.475C>G (p.Leu159Val)
NM_004517.4(ILK):c.482G>A (p.Arg161His)
NM_004517.4(ILK):c.504C>G (p.Phe168Leu) rs1554898796
NM_004517.4(ILK):c.518C>T (p.Thr173Ile)
NM_004517.4(ILK):c.520C>T (p.Arg174Cys)
NM_004517.4(ILK):c.527G>A (p.Arg176Gln)
NM_004517.4(ILK):c.529C>T (p.Pro177Ser)
NM_004517.4(ILK):c.532C>T (p.Arg178Ter)
NM_004517.4(ILK):c.542C>T (p.Thr181Ile)
NM_004517.4(ILK):c.567C>T (p.Asp189=)
NM_004517.4(ILK):c.581A>C (p.Asn194Thr)
NM_004517.4(ILK):c.590C>T (p.Thr197Met) rs767383055
NM_004517.4(ILK):c.591G>A (p.Thr197=)
NM_004517.4(ILK):c.601G>A (p.Glu201Lys) rs1057518584
NM_004517.4(ILK):c.610T>G (p.Ser204Ala)
NM_004517.4(ILK):c.614G>A (p.Gly205Glu) rs548542841
NM_004517.4(ILK):c.619C>G (p.Leu207Val)
NM_004517.4(ILK):c.641G>A (p.Gly214Asp)
NM_004517.4(ILK):c.649A>T (p.Ile217Phe)
NM_004517.4(ILK):c.655G>A (p.Val219Met)
NM_004517.4(ILK):c.656T>A (p.Val219Glu) rs2134563739
NM_004517.4(ILK):c.673C>T (p.Arg225Ter) rs1179732298
NM_004517.4(ILK):c.679T>A (p.Trp227Arg)
NM_004517.4(ILK):c.695G>A (p.Ser232Asn) rs2134564162
NM_004517.4(ILK):c.700G>A (p.Asp234Asn)
NM_004517.4(ILK):c.707A>T (p.Asn236Ile)
NM_004517.4(ILK):c.738G>A (p.Ser246=)
NM_004517.4(ILK):c.758T>C (p.Val253Ala)
NM_004517.4(ILK):c.766G>A (p.Ala256Thr) rs779240233
NM_004517.4(ILK):c.790C>T (p.His264Tyr)
NM_004517.4(ILK):c.794C>T (p.Pro265Leu)
NM_004517.4(ILK):c.815T>G (p.Met272Arg)
NM_004517.4(ILK):c.836A>G (p.Asn279Ser) rs1855298413
NM_004517.4(ILK):c.838G>A (p.Val280Ile)
NM_004517.4(ILK):c.856+1G>A rs1589940179
NM_004517.4(ILK):c.865G>A (p.Val289Met)
NM_004517.4(ILK):c.944T>C (p.Ile315Thr)
NM_004517.4(ILK):c.958C>A (p.Leu320Ile) rs912510389
NM_004517.4(ILK):c.958C>T (p.Leu320Phe)
NM_004517.4(ILK):c.961A>G (p.Asn321Asp)
NM_004517.4(ILK):c.995C>T (p.Thr332Ile)
NM_006284.4(TAF10):c.*1074C>T
NM_006284.4(TAF10):c.*1413A>G
NM_006284.4(TAF10):c.*1430G>C
NM_006284.4(TAF10):c.*1761G>C
NM_006284.4(TAF10):c.*2041A>G
NM_006284.4(TAF10):c.*2129dup
NM_006284.4(TAF10):c.*2535C>T rs1405710988
NM_006284.4(TAF10):c.*882C>T rs1855340750

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.