ClinVar Miner

List of variants reported as likely benign for diffuse palmoplantar keratoderma by Illumina Laboratory Services, Illumina

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_004415.4(DSP):c.*276_*278del rs144440643 0.01744
NM_000226.4(KRT9):c.1587T>C (p.Gly529=) rs146001104 0.01330
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_024009.3(GJB3):c.*231G>A rs72898302 0.01235
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_001110219.3(GJB6):c.-295-210G>A rs61058739 0.00821
NM_025216.2(WNT10A):c.-400T>G rs556182426 0.00738
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_001110219.3(GJB6):c.*714C>T rs76179836 0.00656
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_001110219.3(GJB6):c.-296+269G>A rs142230271 0.00523
NM_000226.4(KRT9):c.1045-9G>A rs144984735 0.00511
NM_000226.4(KRT9):c.1395-13C>T rs187834511 0.00480
NM_004782.4(SNAP29):c.*26T>C rs144082104 0.00470
NM_020427.3(SLURP1):c.*143G>A rs182887603 0.00469
NM_000226.4(KRT9):c.855G>T (p.Leu285=) rs115349045 0.00468
NM_000226.4(KRT9):c.351T>C (p.Gly117=) rs115965791 0.00458
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_025216.3(WNT10A):c.*216G>C rs552325173 0.00422
NM_001814.5(CTSC):c.-91T>G rs144306006 0.00400
NM_004782.4(SNAP29):c.*2277C>T rs115923524 0.00396
NM_000226.4(KRT9):c.510G>A (p.Lys170=) rs116096066 0.00382
NM_000226.4(KRT9):c.1170+8G>T rs150892974 0.00360
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00265
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898 0.00251
NM_000226.4(KRT9):c.245G>A (p.Ser82Asn) rs148867398 0.00227
NM_004782.4(SNAP29):c.*614C>G rs192171507 0.00226
NM_004782.4(SNAP29):c.*2411T>C rs139989203 0.00216
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126 0.00197
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg) rs62636565 0.00179
NM_004782.4(SNAP29):c.*3285G>T rs112322969 0.00170
NM_001814.6(CTSC):c.-45C>G rs181685520 0.00163
NM_001110219.3(GJB6):c.-295-100C>T rs55901410 0.00153
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_000226.4(KRT9):c.948C>T (p.Gly316=) rs111424754 0.00116
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_001110219.3(GJB6):c.*613T>G rs41292217 0.00086
NM_025216.2(WNT10A):c.-312C>T rs138370318 0.00068
NM_001110219.3(GJB6):c.-295-227C>T rs138547643 0.00066
NM_001110219.3(GJB6):c.-295-129G>A rs539881427 0.00063
NM_000226.4(KRT9):c.1800C>T (p.Tyr600=) rs148193621 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767 0.00043
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_000226.4(KRT9):c.-57T>C rs143343698 0.00038
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys) rs370476720 0.00034
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_004782.4(SNAP29):c.*3246A>G rs149152565 0.00032
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00030
NM_000226.4(KRT9):c.540C>A (p.Asp180Glu) rs114438618 0.00029
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_000226.4(KRT9):c.222C>T (p.Gly74=) rs114665757 0.00026
NM_004415.4(DSP):c.*47T>C rs376397291 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743 0.00026
NM_025216.3(WNT10A):c.234C>T (p.His78=) rs199802454 0.00025
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_025216.3(WNT10A):c.534A>G (p.Gln178=) rs746227205 0.00018
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NC_000006.12:g.7541635C>T rs547069600 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_025216.3(WNT10A):c.918C>G (p.Asn306Lys) rs745513263 0.00014
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_006121.4(KRT1):c.1511-11T>C rs201036490 0.00012
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala) rs140098565 0.00009
NM_025216.3(WNT10A):c.*128T>C rs1054630 0.00008
NM_000226.4(KRT9):c.437G>A (p.Gly146Asp) rs115534630 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_006121.4(KRT1):c.1475+14G>A rs369324638 0.00006
NM_024009.3(GJB3):c.293G>A (p.Arg98His) rs201314683 0.00006
NM_000226.4(KRT9):c.72C>T (p.Ser24=) rs369925340 0.00005
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 0.00004
NM_006121.4(KRT1):c.1527C>T (p.His509=) rs371428130 0.00004
NM_006121.4(KRT1):c.45G>A (p.Gly15=) rs549917182 0.00004
NM_024009.3(GJB3):c.-18C>T rs371413520 0.00004
NM_024009.3(GJB3):c.660G>A (p.Lys220=) rs777765331 0.00004
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_025216.3(WNT10A):c.420C>T (p.Gly140=) rs148979463 0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_006121.4(KRT1):c.1107C>T (p.Ala369=) rs183980482 0.00002
NM_001110219.3(GJB6):c.-295-278G>A rs573703525 0.00001
NM_004004.6(GJB2):c.546G>A (p.Val182=) rs752236261 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004782.4(SNAP29):c.*1667G>A rs370941828 0.00001
NM_004782.4(SNAP29):c.*2143G>A rs370242754 0.00001
NM_004782.4(SNAP29):c.*3252T>G rs376610436 0.00001
NM_006121.4(KRT1):c.1482T>C (p.Ser494=) rs181516749 0.00001
NM_024009.3(GJB3):c.165C>T (p.Thr55=) rs779347602 0.00001
NM_024009.3(GJB3):c.317G>A (p.Arg106His) rs369979083 0.00001
NM_025216.3(WNT10A):c.*275C>T rs182186187 0.00001
NM_001110219.3(GJB6):c.-295-208G>A rs142299925
NM_025216.2(WNT10A):c.-203dup rs561005501
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598

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