ClinVar Miner

List of variants reported as pathogenic for diffuse palmoplantar keratoderma

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_003784.4(SERPINB7):c.522dup (p.Val175fs) rs672601344 0.00009
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
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_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439 0.00006
NM_003784.4(SERPINB7):c.157C>T (p.Gln53Ter) rs199555021 0.00005
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_020751.3(COG6):c.511C>T (p.Arg171Ter) rs200177031 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_001651.4(AQP5):c.113C>A (p.Ala38Glu) rs398123054 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_003784.4(SERPINB7):c.455-1G>A rs577442939 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg) rs28937888 0.00003
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00003
NM_001651.4(AQP5):c.562C>T (p.Arg188Cys) rs368292687 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_025216.3(WNT10A):c.1084T>C (p.Cys362Arg) rs1268725013 0.00002
NM_025216.3(WNT10A):c.311G>A (p.Arg104His) rs374910216 0.00002
NM_025216.3(WNT10A):c.376+1G>A rs561503117 0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726 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.1A>G (p.Met1Val) rs886048742 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.131G>A (p.Trp44Ter) rs104894413 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_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 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
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu) rs893127185 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) rs764658964 0.00001
NM_025216.3(WNT10A):c.627G>A (p.Trp209Ter) rs1306584103 0.00001
NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter) rs1156948793 0.00001
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg) rs775380022 0.00001
NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter) rs377416834 0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His) rs1434390821 0.00001
NM_025216.3(WNT10A):c.932del (p.Glu311fs) rs1559416138 0.00001
NC_000002.11:g.(?_219745708)_(219747155_?)del
NC_000002.11:g.(?_219745718)_(219757993_?)del
NC_000002.12:g.(?_218880976)_(218893291_?)del
NC_000011.9:g.(?_88045475)_(88071056_?)del
NC_000013.10:g.(?_20797176)_21105944del
NC_000022.10:g.29758984_29815476del
NC_012920.1:m.7445A>G rs199474818
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
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.515dup (p.Gly173fs)
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.374G>A (p.Arg125His) rs58330629
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_001382267.1(SERPINA12):c.1051G>T (p.Glu351Ter)
NM_001382267.1(SERPINA12):c.631C>T (p.Arg211Ter)
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.-55C>A
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
NM_001814.6(CTSC):c.1096del (p.His366fs)
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
NM_001814.6(CTSC):c.124del (p.Gln42fs)
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.189dup (p.Val64fs)
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.21del (p.Leu7fs)
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
NM_001814.6(CTSC):c.319-1G>A
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
NM_001814.6(CTSC):c.407del (p.Cys136fs)
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
NM_001814.6(CTSC):c.436del (p.Ser146fs)
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
NM_001814.6(CTSC):c.622_628del (p.His208fs)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
NM_001814.6(CTSC):c.706del (p.Asp236fs)
NM_001814.6(CTSC):c.725del (p.Gly242fs)
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.783del (p.Phe261fs)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.857del (p.Gln286fs)
NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer)
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
NM_001814.6(CTSC):c.889+1G>A
NM_001814.6(CTSC):c.890-1G>A
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_001814.6(CTSC):c.[1211delA;190_191insA]
NM_001814.6(CTSC):c.[716A>G;757+1G>A]
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.395C>A (p.Ser132Ter) rs2144091452
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.724C>T (p.Arg242Ter) rs568609861
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_003784.4(SERPINB7):c.650_653del (p.Ser217fs) rs534014297
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.175G>C (p.Gly59Arg) 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.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) rs879253741
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
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.211C>T (p.Arg71Cys)
NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg) rs121908319
NM_020427.3(SLURP1):c.243C>A (p.Asp81Glu)
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_020751.3(COG6):c.252del (p.Ala85fs) rs2137942150
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
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.1018G>T (p.Glu340Ter)
NM_025216.3(WNT10A):c.1036del (p.Cys346fs)
NM_025216.3(WNT10A):c.1046del (p.Glu349fs)
NM_025216.3(WNT10A):c.1063del (p.Ala355fs) rs2106018668
NM_025216.3(WNT10A):c.1070C>T (p.Thr357Ile)
NM_025216.3(WNT10A):c.1091dup (p.Ser365fs) rs2106018717
NM_025216.3(WNT10A):c.1114T>G (p.Cys372Gly) rs1487577386
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter) rs121908122
NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs) rs1944678383
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter) rs750260671
NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter) rs1553623389
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr) rs1575235227
NM_025216.3(WNT10A):c.152del (p.Pro51fs)
NM_025216.3(WNT10A):c.1A>G (p.Met1Val)
NM_025216.3(WNT10A):c.1A>T (p.Met1Leu) rs1221516695
NM_025216.3(WNT10A):c.251dup (p.Ala85fs)
NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter) rs121908123
NM_025216.3(WNT10A):c.295del (p.Gln99fs) rs2106011673
NM_025216.3(WNT10A):c.315G>A (p.Trp105Ter) rs886055642
NM_025216.3(WNT10A):c.354T>A (p.Tyr118Ter) rs2106011732
NM_025216.3(WNT10A):c.37C>T (p.Arg13Ter)
NM_025216.3(WNT10A):c.380del (p.Phe127fs)
NM_025216.3(WNT10A):c.381_382delinsTT (p.Arg128Ter)
NM_025216.3(WNT10A):c.386del (p.Glu129fs)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.490C>T (p.Arg164Ter) rs561173643
NM_025216.3(WNT10A):c.495_502dup (p.Glu168fs) rs2106016170
NM_025216.3(WNT10A):c.532C>T (p.Gln178Ter)
NM_025216.3(WNT10A):c.532_536del (p.Gln178fs) rs2106016227
NM_025216.3(WNT10A):c.547C>T (p.Gln183Ter)
NM_025216.3(WNT10A):c.55_56dup (p.Pro20fs) rs2106010718
NM_025216.3(WNT10A):c.574del (p.Val192fs)
NM_025216.3(WNT10A):c.580del (p.Glu194fs) rs2106016293
NM_025216.3(WNT10A):c.5_27del (p.Gly2fs)
NM_025216.3(WNT10A):c.648del (p.Asp217fs) rs2106016375
NM_025216.3(WNT10A):c.673del (p.Ser225fs)
NM_025216.3(WNT10A):c.68G>A (p.Trp23Ter)
NM_025216.3(WNT10A):c.694del (p.Arg232fs) rs1575233692
NM_025216.3(WNT10A):c.694dup (p.Arg232fs)
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter) rs121908118
NM_025216.3(WNT10A):c.69G>A (p.Trp23Ter)
NM_025216.3(WNT10A):c.717del (p.His239fs) rs1944636041
NM_025216.3(WNT10A):c.756+1G>A rs1944637150
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter) rs886039454
NM_025216.3(WNT10A):c.813C>A (p.Cys271Ter)
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) rs773036759
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser) rs1011303295
NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter) rs1332945612
NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter) rs2106018205
NM_025216.3(WNT10A):c.844G>T (p.Glu282Ter)
NM_025216.3(WNT10A):c.847_851del (p.Phe283fs) rs2106018239
NM_025216.3(WNT10A):c.85del (p.Leu29fs) rs781237311
NM_025216.3(WNT10A):c.898_899del (p.Ile300fs) rs1553623281
NM_025216.3(WNT10A):c.903_906del (p.Pro302fs) rs1371718238
NM_025216.3(WNT10A):c.909_916del (p.His303fs) rs1944671913
NM_025216.3(WNT10A):c.932dup (p.Pro312fs) rs2106018397
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_025216.3(WNT10A):c.949dup (p.Ala317fs) rs775990266
NM_025216.3(WNT10A):c.956C>A (p.Ser319Ter)
NM_025216.3(WNT10A):c.981_993dup (p.Ser332fs)
NM_025216.3(WNT10A):c.982_986dup (p.Arg330fs)
NM_025216.3(WNT10A):c.983_984del (p.Arg328fs)
NM_025216.3(WNT10A):c.990_1003dup (p.Asp335fs) rs1203128182
NM_025216.3(WNT10A):c.993del (p.Ser332fs) rs2106018559
NM_025216.3(WNT10A):c.99_105dup (p.Met36fs)
NM_025216.3(WNT10A):c.[487C>T];[682T>A]
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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