ClinVar Miner

List of variants reported as pathogenic for diffuse palmoplantar keratoderma by OMIM

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_003784.4(SERPINB7):c.522dup (p.Val175fs) rs672601344 0.00009
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_002035.4(KDSR):c.879G>A (p.Gln293=) rs752611378 0.00006
NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg) rs121908318 0.00006
NM_020427.3(SLURP1):c.82del (p.Cys28fs) rs587776601 0.00006
NM_001651.4(AQP5):c.113C>A (p.Ala38Glu) rs398123054 0.00003
NM_003784.4(SERPINB7):c.455-1G>A rs577442939 0.00003
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg) rs28937888 0.00003
NM_001651.4(AQP5):c.562C>T (p.Arg188Cys) rs368292687 0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262 0.00001
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) rs267607391 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp) rs1160266009 0.00001
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) rs104894211 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_002035.4(KDSR):c.164_166del (p.Gln55_Gly56delinsArg) rs1114167450 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr) rs886041240 0.00001
NM_020427.3(SLURP1):c.296G>A (p.Cys99Tyr) rs121908320 0.00001
NM_022121.5(PERP):c.112del (p.Ser38fs) rs769404975 0.00001
NC_000022.10:g.29758984_29815476del
NC_012920.1:m.7445A>G rs199474818
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000165.5(GJA1):c.23G>T (p.Gly8Val) rs864309644
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) rs875989815
NM_000226.4(KRT9):c.469A>G (p.Met157Val) rs58597584
NM_000226.4(KRT9):c.470T>C (p.Met157Thr) rs59510579
NM_000226.4(KRT9):c.478C>G (p.Leu160Val) rs28940896
NM_000226.4(KRT9):c.478C>T (p.Leu160Phe) rs28940896
NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr) rs59296273
NM_000226.4(KRT9):c.482A>G (p.Asn161Ser) rs56707768
NM_000226.4(KRT9):c.482A>T (p.Asn161Ile) rs56707768
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) rs57536312
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000226.4(KRT9):c.503T>C (p.Leu168Ser) rs61157095
NM_000226.4(KRT9):c.511G>A (p.Val171Met) rs57019720
NM_000226.4(KRT9):c.515A>C (p.Gln172Pro) rs59878153
NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs) rs886041212
NM_000526.5(KRT14):c.17del (p.Arg6fs) rs267607390
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter) rs60831116
NM_001033053.2(NLRP1):c.2358-?_2528+?del
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu) rs104894416
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter) rs2147978539
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter) rs1334834057
NM_001127.4(AP1B1):c.2335del (p.Leu779fs) rs1602683532
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter) rs780548317
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)
NM_001127.4(AP1B1):c.38-1G>A rs1602761438
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg) rs1602749299
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro) rs2147995205
NM_001242908.2(RSPO1):c.-288-413_94+1957del
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9) rs2148163144
NM_001651.4(AQP5):c.134T>G (p.Ile45Ser) rs398123055
NM_001651.4(AQP5):c.367A>G (p.Asn123Asp) rs398123057
NM_001651.4(AQP5):c.529A>T (p.Ile177Phe) rs398123056
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.890-1G>A
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_001942.4(DSG1):c.1079dup (p.Ile361fs) rs398122949
NM_001942.4(DSG1):c.121dup (p.Trp41fs) rs398122951
NM_001942.4(DSG1):c.1628del (p.Asn543fs) rs398122950
NM_001942.4(DSG1):c.430A>T (p.Arg144Ter) rs397515641
NM_001942.4(DSG1):c.601C>T (p.Gln201Ter) rs397515640
NM_001942.4(DSG1):c.76C>T (p.Arg26Ter) rs397515639
NM_001942.4(DSG1):c.85-1G>A rs1568039793
NM_002035.4(KDSR):c.256-2A>C rs1114167451
NM_002035.4(KDSR):c.557A>T (p.Tyr186Phe) rs1114167452
NM_002282.3(KRT83):c.811del (p.Ser271fs) rs753293188
NM_003784.4(SERPINB7):c.218_219delinsTAAACTTTACCT (p.Gln73fs) rs797044479
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.162C>A (p.Asn54Lys) rs104894412
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) rs104894404
NM_004004.6(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter) rs1064795236
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del) rs60447237
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) rs57977969
NM_006121.4(KRT1):c.591+2T>A rs267607424
NM_017636.4(TRPM4):c.3099C>G (p.Ile1033Met) rs1278993777
NM_017636.4(TRPM4):c.3119T>C (p.Ile1040Thr) rs1369949906
NM_020127.3(TUFT1):c.564del (p.Gln189fs)
NM_020127.3(TUFT1):c.60+1G>A
NM_020159.5(SMARCAD1):c.1281+649_1281+666del rs1560542180
NM_020159.5(SMARCAD1):c.1281+666T>C rs1114167276
NM_020159.5(SMARCAD1):c.1281+666dup rs1560542214
NM_020427.3(SLURP1):c.178+1G>A rs587776602
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu) rs28937889
NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg) rs121908319
NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg) rs28937888
NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter) rs121908317
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_022121.5(PERP):c.466G>A (p.Gly156Arg) rs1775596006
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro) rs28937583
NM_024009.3(GJB3):c.125G>C (p.Arg42Pro) rs74315321
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser) rs74315317
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg) rs74315315
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) rs74315316
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter) rs121908122
NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter) rs121908123
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter) rs121908118
NM_025216.3(WNT10A):c.756+1G>A rs1944637150
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser) rs1011303295
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr) rs1057519492
NM_033004.4(NLRP1):c.197C>T (p.Ala66Val) rs1057519493
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr) rs397514692
NM_153212.3(GJB4):c.253A>C (p.Thr85Pro) rs80358210
NM_153212.3(GJB4):c.35G>A (p.Gly12Asp) rs80358211
NM_153212.3(GJB4):c.409T>C (p.Phe137Leu) rs80358207
NM_153212.3(GJB4):c.411C>A (p.Phe137Leu) rs80358206
NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr) rs80358213
NM_153212.3(GJB4):c.65G>A (p.Arg22His) rs80358212

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