ClinVar Miner

List of variants studied for integumentary system benign neoplasm by Illumina Laboratory Services, Illumina

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002272.4(KRT4):c.1346+15A>G rs931479 0.83879
NM_153490.3(KRT13):c.735+10A>G rs7211835 0.83623
NM_002272.4(KRT4):c.678-14G>A rs2307027 0.83484
NM_002272.4(KRT4):c.*269A>G rs2035879 0.82793
NM_153490.3(KRT13):c.897+6C>T rs4796698 0.81266
NM_153490.3(KRT13):c.560C>T (p.Ala187Val) rs9891361 0.71565
NM_153490.3(KRT13):c.*171G>T rs903 0.68196
NM_002272.4(KRT4):c.215C>T (p.Ala72Val) rs2638525 0.51489
NM_002272.4(KRT4):c.467A>G (p.Gln156Arg) rs7959052 0.28838
NM_153490.3(KRT13):c.437C>G (p.Ala146Gly) rs760134 0.07279
NM_153490.3(KRT13):c.*170C>T rs3169911 0.05973
NM_002272.4(KRT4):c.1381+15C>T rs7952923 0.03297
NM_002272.4(KRT4):c.261T>A (p.Gly87=) rs74445207 0.02489
NM_153490.3(KRT13):c.204C>A (p.Gly68=) rs113547405 0.02087
NM_153490.3(KRT13):c.736-7C>G rs34367942 0.01881
NM_153490.3(KRT13):c.384C>T (p.Ala128=) rs149623369 0.01541
NM_002272.4(KRT4):c.*133C>T rs78282727 0.01188
NM_002272.4(KRT4):c.122G>A (p.Arg41Gln) rs36143766 0.01050
NM_002272.4(KRT4):c.678-3C>T rs73306189 0.01050
NM_002272.4(KRT4):c.404C>T (p.Thr135Met) rs17119475 0.01042
NM_002272.4(KRT4):c.267T>C (p.Phe89=) rs372168510 0.01016
NM_002272.4(KRT4):c.288G>A (p.Lys96=) rs372013854 0.00989
NM_153490.3(KRT13):c.177T>C (p.Ser59=) rs142246675 0.00900
NM_153490.3(KRT13):c.735+6C>T rs181122697 0.00469
NM_002272.4(KRT4):c.456C>T (p.Ile152=) rs140582332 0.00421
NM_002272.4(KRT4):c.870G>A (p.Thr290=) rs189596654 0.00376
NM_002272.4(KRT4):c.*81T>A rs572216995 0.00279
NM_002272.4(KRT4):c.623G>A (p.Arg208His) rs201795280 0.00223
NM_002272.4(KRT4):c.205C>T (p.Arg69Ter) rs200860840 0.00183
NM_002272.4(KRT4):c.*68C>T rs149040467 0.00159
NM_153490.3(KRT13):c.1276G>A (p.Val426Ile) rs144967807 0.00157
NM_002272.4(KRT4):c.1258C>T (p.Arg420Cys) rs192699667 0.00134
NM_002272.4(KRT4):c.1080G>A (p.Arg360=) rs113928381 0.00131
NM_002272.4(KRT4):c.306C>T (p.Pro102=) rs373594963 0.00121
NM_153490.3(KRT13):c.*274T>C rs141918873 0.00117
NM_002272.4(KRT4):c.1203C>T (p.Arg401=) rs199607128 0.00103
NM_002272.4(KRT4):c.361C>A (p.Pro121Thr) rs200831095 0.00094
NM_153490.3(KRT13):c.509C>G (p.Thr170Ser) rs148102980 0.00087
NM_002272.4(KRT4):c.1318C>T (p.Arg440Cys) rs200484321 0.00081
NM_153490.3(KRT13):c.409C>T (p.Arg137Cys) rs142183272 0.00078
NM_153490.3(KRT13):c.766G>A (p.Gly256Ser) rs140780704 0.00072
NM_153490.3(KRT13):c.767G>A (p.Gly256Asp) rs150947773 0.00060
NM_002272.4(KRT4):c.1495G>C (p.Gly499Arg) rs190897990 0.00056
NM_002272.4(KRT4):c.224G>A (p.Gly75Glu) rs200665579 0.00041
NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro) rs139318123 0.00041
NM_002272.4(KRT4):c.548A>G (p.Asn183Ser) rs199768158 0.00039
NM_002272.4(KRT4):c.766G>A (p.Val256Met) rs201754946 0.00035
NM_002272.4(KRT4):c.*30T>A rs372075566 0.00033
NM_153490.3(KRT13):c.-45C>A rs367712050 0.00029
NM_153490.3(KRT13):c.1366C>T (p.Arg456Cys) rs146666963 0.00029
NM_002272.4(KRT4):c.1493T>C (p.Phe498Ser) rs377399080 0.00024
NM_153490.3(KRT13):c.765C>T (p.Val255=) rs147564962 0.00023
NM_153490.3(KRT13):c.*228C>G rs574184263 0.00022
NM_153490.3(KRT13):c.947C>T (p.Thr316Ile) rs753928241 0.00022
NM_002272.4(KRT4):c.873C>T (p.Ser291=) rs754647771 0.00011
NM_153490.3(KRT13):c.*268C>T rs188347004 0.00011
NM_002272.4(KRT4):c.*289G>A rs886049639 0.00010
NM_002272.4(KRT4):c.1419C>T (p.Ser473=) rs534019513 0.00010
NM_002272.4(KRT4):c.475G>A (p.Glu159Lys) rs188245182 0.00010
NM_153490.3(KRT13):c.1238A>T (p.Asp413Val) rs200269035 0.00010
NM_153490.3(KRT13):c.815G>A (p.Arg272His) rs142526332 0.00010
NM_002272.4(KRT4):c.1386G>A (p.Val462=) rs373947229 0.00009
NM_153490.3(KRT13):c.637C>T (p.Arg213Trp) rs78223890 0.00009
NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys) rs367751022 0.00008
NM_002272.4(KRT4):c.31G>A (p.Gly11Arg) rs371421345 0.00008
NM_002272.4(KRT4):c.364C>G (p.Leu122Val) rs758695571 0.00007
NM_002272.4(KRT4):c.-51G>A rs531951809 0.00006
NM_002272.4(KRT4):c.1192C>T (p.His398Tyr) rs374654554 0.00006
NM_002272.4(KRT4):c.359C>A (p.Thr120Asn) rs201805600 0.00006
NM_002272.4(KRT4):c.466C>T (p.Gln156Ter) rs535497819 0.00005
NM_153490.3(KRT13):c.1133G>A (p.Arg378His) rs200309164 0.00005
NM_002272.4(KRT4):c.1204G>A (p.Val402Ile) rs772882487 0.00004
NM_002272.4(KRT4):c.1512C>A (p.Gly504=) rs573971498 0.00004
NM_002272.4(KRT4):c.405G>A (p.Thr135=) rs762792489 0.00004
NM_002272.4(KRT4):c.954T>C (p.Ile318=) rs770727989 0.00004
NM_153490.3(KRT13):c.759G>C (p.Gln253His) rs766894151 0.00004
NM_153490.3(KRT13):c.869G>A (p.Arg290Gln) rs535020030 0.00004
NM_002272.4(KRT4):c.317C>G (p.Ala106Gly) rs753431318 0.00003
NM_002272.4(KRT4):c.513G>A (p.Leu171=) rs774677002 0.00003
NM_002272.4(KRT4):c.527C>T (p.Thr176Met) rs370759790 0.00003
NM_002272.4(KRT4):c.835-4G>T rs767441876 0.00003
NM_002272.4(KRT4):c.945C>T (p.Tyr315=) rs778125368 0.00003
NM_002272.4(KRT4):c.983C>T (p.Ala328Val) rs749943854 0.00003
NM_153490.3(KRT13):c.*175G>A rs1459808765 0.00003
NM_153490.3(KRT13):c.1028C>T (p.Ala343Val) rs199762312 0.00003
NM_153490.3(KRT13):c.1227C>T (p.Leu409=) rs149077503 0.00003
NM_153490.3(KRT13):c.1350C>T (p.Arg450=) rs140142101 0.00003
NM_153490.3(KRT13):c.291C>T (p.Gly97=) rs747752896 0.00003
NM_153490.3(KRT13):c.991C>T (p.Leu331=) rs771435962 0.00003
NM_002272.4(KRT4):c.*267G>A rs546884677 0.00002
NM_002272.4(KRT4):c.*496T>G rs753033796 0.00002
NM_002272.4(KRT4):c.1147G>A (p.Val383Met) rs751984023 0.00002
NM_002272.4(KRT4):c.193G>A (p.Val65Met) rs754420448 0.00002
NM_153490.3(KRT13):c.1295C>G (p.Ser432Cys) rs1394162514 0.00002
NM_153490.3(KRT13):c.1352G>A (p.Arg451His) rs550693344 0.00002
NM_002272.4(KRT4):c.-54A>T rs369760401 0.00001
NM_002272.4(KRT4):c.1347-3C>T rs777376453 0.00001
NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg) rs771250577 0.00001
NM_002272.4(KRT4):c.457G>A (p.Asp153Asn) rs780754412 0.00001
NM_002272.4(KRT4):c.558C>G (p.Pro186=) rs766644080 0.00001
NM_002272.4(KRT4):c.677+4C>T rs886049642 0.00001
NM_002272.4(KRT4):c.678-10C>T rs777722293 0.00001
NM_153490.3(KRT13):c.*74A>C rs886052907 0.00001
NM_153490.3(KRT13):c.1220G>A (p.Ser407Asn) rs1265435884 0.00001
NM_153490.3(KRT13):c.337G>A (p.Asp113Asn) rs886052908 0.00001
NM_153490.3(KRT13):c.420C>T (p.His140=) rs530596803 0.00001
NM_153490.3(KRT13):c.449G>A (p.Arg150Gln) rs548070268 0.00001
NM_153490.3(KRT13):c.496-9A>G rs780820686 0.00001
NM_153490.3(KRT13):c.823G>A (p.Ala275Thr) rs767618537 0.00001
NM_153490.3(KRT13):c.844G>A (p.Glu282Lys) rs202057977 0.00001
NM_153490.3(KRT13):c.9C>T (p.Leu3=) rs185787290 0.00001
NM_002272.4(KRT4):c.*126C>A rs886049640
NM_002272.4(KRT4):c.*405G>A rs886049638
NM_002272.4(KRT4):c.1020G>C (p.Ser340=) rs7956809
NM_002272.4(KRT4):c.1072C>G (p.Leu358Val) rs1939839883
NM_002272.4(KRT4):c.1259G>A (p.Arg420His) rs377329227
NM_002272.4(KRT4):c.1346+15A>T rs931479
NM_002272.4(KRT4):c.1467C>A (p.Gly489=) rs1345230715
NM_002272.4(KRT4):c.186C>T (p.Ser62=) rs886049645
NM_002272.4(KRT4):c.25C>G (p.Arg9Gly) rs886049646
NM_002272.4(KRT4):c.353T>G (p.Leu118Trp) rs886049644
NM_002272.4(KRT4):c.463-9T>C rs886049643
NM_002272.4(KRT4):c.54C>G (p.Gly18=) rs748727199
NM_002272.4(KRT4):c.726G>A (p.Val242=) rs886049641
NM_002272.4(KRT4):c.741C>G (p.Asp247Glu) rs369593094
NM_002272.4(KRT4):c.801C>T (p.Asp267=) rs369207280
NM_002272.4(KRT4):c.834+2T>G rs937464890
NM_153490.3(KRT13):c.*162T>C rs1904829902
NM_153490.3(KRT13):c.*19C>T rs760565338
NM_153490.3(KRT13):c.*85C>T rs886052906
NM_153490.3(KRT13):c.1217G>T (p.Arg406Leu) rs145983286
NM_153490.3(KRT13):c.1286G>A (p.Arg429His) rs150321809
NM_153490.3(KRT13):c.523C>G (p.Arg175Gly) rs764088068
NM_153490.3(KRT13):c.540T>C (p.Ile180=) rs755205284
NM_153490.3(KRT13):c.610G>A (p.Val204Met) rs138102206
NM_153490.3(KRT13):c.853G>A (p.Ala285Thr) rs1904920258

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.