ClinVar Miner

List of variants studied for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 346
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HGVS dbSNP
LOR, 1-BP INS, 709C
LOR, 1-BP INS, 730G
NC_000013.10:g.(?_20716100)_(21398980_?)dup
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_000427.3(LORICRIN):c.112_114GGC[5] (p.Gly41dup) rs770195151
NM_000526.5(KRT14):c.17del (p.Arg6fs) rs267607390
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) rs267607391
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter) rs60831116
NM_001033053.2(NLRP1):c.2358-?_2528+?del
NM_001110219.3(GJB6):c.*25C>T rs112845420
NM_001110219.3(GJB6):c.*301G>C rs112723181
NM_001110219.3(GJB6):c.*337G>T rs7333214
NM_001110219.3(GJB6):c.*559C>T rs886050029
NM_001110219.3(GJB6):c.*628G>T rs577545882
NM_001110219.3(GJB6):c.*714C>T rs76179836
NM_001110219.3(GJB6):c.-105T>A rs114639494
NM_001110219.3(GJB6):c.-122T>C rs886050031
NM_001110219.3(GJB6):c.-149G>A rs886050032
NM_001110219.3(GJB6):c.-166A>C rs886050033
NM_001110219.3(GJB6):c.-178C>T rs886050034
NM_001110219.3(GJB6):c.-26A>G rs886050030
NM_001110219.3(GJB6):c.-295-100C>T rs55901410
NM_001110219.3(GJB6):c.-295-129G>A rs539881427
NM_001110219.3(GJB6):c.-295-192A>G rs886050036
NM_001110219.3(GJB6):c.-295-210G>A rs61058739
NM_001110219.3(GJB6):c.-295-219G>A rs7333727
NM_001110219.3(GJB6):c.-295-278G>A rs573703525
NM_001110219.3(GJB6):c.-295-99A>C rs886050035
NM_001110219.3(GJB6):c.-296+210C>A rs886050039
NM_001110219.3(GJB6):c.-296+265C>T rs886050038
NM_001110219.3(GJB6):c.-296+269G>A rs142230271
NM_001110219.3(GJB6):c.-296+283T>C rs886050037
NM_001110219.3(GJB6):c.-3G>A rs372835743
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu) rs104894416
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln)
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.666A>G (p.Ser222=) rs138571061
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650
NM_001128430.2(SMARCAD1):c.1281+649_1281+666del rs1560542180
NM_001128430.2(SMARCAD1):c.1281+666T>C rs1114167276
NM_001128430.2(SMARCAD1):c.1281+666dup rs1560542214
NM_002035.4(KDSR):c.164_166del (p.Gln55_Gly56delinsArg) rs1114167450
NM_002035.4(KDSR):c.256-2A>C rs1114167451
NM_002035.4(KDSR):c.557A>T (p.Tyr186Phe) rs1114167452
NM_002035.4(KDSR):c.879G>A (p.Gln293=) rs752611378
NM_002282.3(KRT83):c.811del (p.Ser271fs) rs753293188
NM_004004.5(GJB2):c.*1447G>A rs11839674
NM_004004.6(GJB2):c.*1016A>G rs537683957
NM_004004.6(GJB2):c.*1033G>A rs185790172
NM_004004.6(GJB2):c.*104A>T rs7337074
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*111C>T rs7329857
NM_004004.6(GJB2):c.*114T>C rs182085649
NM_004004.6(GJB2):c.*1152G>A rs7623
NM_004004.6(GJB2):c.*1197T>A rs11841182
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1277T>C rs7988691
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*168A>G rs55704559
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*423C>T rs112457424
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.*598C>A rs550600399
NM_004004.6(GJB2):c.*786G>A rs187158699
NM_004004.6(GJB2):c.*800A>G rs886050027
NM_004004.6(GJB2):c.*84T>C rs3751385
NM_004004.6(GJB2):c.*931C>T rs5030700
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.-6T>A rs148136545
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
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.167del (p.Leu56fs) rs80338942
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.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.6(GJB2):c.196G>C (p.Asp66His) rs104894403
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) rs879253741
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_015884.4(MBTPS2):c.1391T>C (p.Phe464Ser) rs587777306
NM_015932.5(POMP):c.-95del rs112368783
NM_024009.2(GJB3):c.-606T>C rs538085084
NM_024009.3(GJB3):c.*120C>T rs1057515479
NM_024009.3(GJB3):c.*191C>T rs541330173
NM_024009.3(GJB3):c.*218C>A rs78145978
NM_024009.3(GJB3):c.*231G>A rs72898302
NM_024009.3(GJB3):c.*306C>T rs1015503523
NM_024009.3(GJB3):c.*369G>C rs2236214
NM_024009.3(GJB3):c.*429G>A rs545843697
NM_024009.3(GJB3):c.*434G>A rs567318744
NM_024009.3(GJB3):c.*43C>A rs41266429
NM_024009.3(GJB3):c.*493C>T rs13774
NM_024009.3(GJB3):c.*532del rs935438706
NM_024009.3(GJB3):c.*53G>A rs476220
NM_024009.3(GJB3):c.*541G>A rs1057515516
NM_024009.3(GJB3):c.*559G>C rs9118
NM_024009.3(GJB3):c.*626C>G rs74567877
NM_024009.3(GJB3):c.*75del rs1057515478
NM_024009.3(GJB3):c.*80G>C rs779242382
NM_024009.3(GJB3):c.-141C>G rs113824402
NM_024009.3(GJB3):c.-159T>C rs987840683
NM_024009.3(GJB3):c.-177G>A rs1057515477
NM_024009.3(GJB3):c.-18C>T rs371413520
NM_024009.3(GJB3):c.-231G>A rs1057515551
NM_024009.3(GJB3):c.-307T>C rs764352147
NM_024009.3(GJB3):c.-383G>A rs1057515476
NM_024009.3(GJB3):c.-398C>G rs1057515443
NM_024009.3(GJB3):c.-399G>A rs141275770
NM_024009.3(GJB3):c.-407C>T rs547065589
NM_024009.3(GJB3):c.-93C>T rs1057515515
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.165C>T (p.Thr55=) rs779347602
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys) rs370476720
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser) rs74315317
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg) rs74315315
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) rs74315316
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr) rs756737667
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064
NM_024009.3(GJB3):c.660G>A (p.Lys220=) rs777765331
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826
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_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys)
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter) rs758319723
NM_145068.3(TRPV3):c.-142G>C rs11870904
NM_145068.3(TRPV3):c.-177C>T rs886052858
NM_145068.3(TRPV3):c.-190G>A rs322959
NM_145068.3(TRPV3):c.-220G>A rs773689429
NM_145068.3(TRPV3):c.-226G>C rs187117947
NM_145068.3(TRPV3):c.-234C>T rs568432604
NM_145068.3(TRPV3):c.-245G>A rs886052859
NM_145068.3(TRPV3):c.-269A>G rs322958
NM_145068.3(TRPV3):c.-279T>C rs552876200
NM_145068.3(TRPV3):c.-313C>T rs540741805
NM_145068.3(TRPV3):c.-318A>G rs112731342
NM_145068.4(TRPV3):c.*1039T>C rs10852860
NM_145068.4(TRPV3):c.*1083A>C rs144909742
NM_145068.4(TRPV3):c.*1100T>A rs558730764
NM_145068.4(TRPV3):c.*1110_*1111TG[1] rs886052849
NM_145068.4(TRPV3):c.*1218G>A rs886052848
NM_145068.4(TRPV3):c.*1229G>C rs1507615
NM_145068.4(TRPV3):c.*132G>C rs745761873
NM_145068.4(TRPV3):c.*1424G>A rs73977750
NM_145068.4(TRPV3):c.*1485G>A rs542568031
NM_145068.4(TRPV3):c.*1533A>C rs1507614
NM_145068.4(TRPV3):c.*1565T>C rs9303177
NM_145068.4(TRPV3):c.*1590T>C rs5818898
NM_145068.4(TRPV3):c.*1590del rs869218825
NM_145068.4(TRPV3):c.*1591G>C rs5010536
NM_145068.4(TRPV3):c.*1591_*1592insC rs112072753
NM_145068.4(TRPV3):c.*1591del rs57868197
NM_145068.4(TRPV3):c.*1621del rs200084165
NM_145068.4(TRPV3):c.*1625C>G rs886052847
NM_145068.4(TRPV3):c.*1669G>A rs886052846
NM_145068.4(TRPV3):c.*1790G>C rs76456640
NM_145068.4(TRPV3):c.*1841C>A rs2087892
NM_145068.4(TRPV3):c.*1940T>G rs886052845
NM_145068.4(TRPV3):c.*2014A>T rs79031278
NM_145068.4(TRPV3):c.*2019A>G rs753994797
NM_145068.4(TRPV3):c.*2054A>T rs554529243
NM_145068.4(TRPV3):c.*2068A>G rs143685899
NM_145068.4(TRPV3):c.*2072A>C rs575890184
NM_145068.4(TRPV3):c.*2087T>G rs115011025
NM_145068.4(TRPV3):c.*2093C>T rs9912448
NM_145068.4(TRPV3):c.*2094G>A rs59731070
NM_145068.4(TRPV3):c.*2115G>A rs4790505
NM_145068.4(TRPV3):c.*2153A>G rs545225352
NM_145068.4(TRPV3):c.*2169C>A rs147868324
NM_145068.4(TRPV3):c.*2272T>C rs4790504
NM_145068.4(TRPV3):c.*2296T>C rs886052844
NM_145068.4(TRPV3):c.*2352G>A rs4790503
NM_145068.4(TRPV3):c.*2365T>C rs886052843
NM_145068.4(TRPV3):c.*2437A>G rs4790502
NM_145068.4(TRPV3):c.*2490T>C rs886052842
NM_145068.4(TRPV3):c.*25dup rs575765196
NM_145068.4(TRPV3):c.*2611G>A rs147744836
NM_145068.4(TRPV3):c.*2622G>T rs886052841
NM_145068.4(TRPV3):c.*2671C>T rs886052840
NM_145068.4(TRPV3):c.*2729A>G rs118043532
NM_145068.4(TRPV3):c.*2783G>A rs182187548
NM_145068.4(TRPV3):c.*279G>C rs544410561
NM_145068.4(TRPV3):c.*2808C>T rs190136323
NM_145068.4(TRPV3):c.*2895C>G rs886052839
NM_145068.4(TRPV3):c.*3045G>T rs773007859
NM_145068.4(TRPV3):c.*3051A>G rs2271158
NM_145068.4(TRPV3):c.*3076A>C rs9913028
NM_145068.4(TRPV3):c.*3148G>A rs886052838
NM_145068.4(TRPV3):c.*3149T>C rs2271157
NM_145068.4(TRPV3):c.*3154C>T rs2271156
NM_145068.4(TRPV3):c.*3196T>C rs188531155
NM_145068.4(TRPV3):c.*3255G>A rs117019701
NM_145068.4(TRPV3):c.*3295G>C rs886052837
NM_145068.4(TRPV3):c.*32C>T rs368105861
NM_145068.4(TRPV3):c.*3302_*3303TG[5] rs886052836
NM_145068.4(TRPV3):c.*3307G>A rs17822789
NM_145068.4(TRPV3):c.*3340C>G rs886052835
NM_145068.4(TRPV3):c.*56dup rs559927242
NM_145068.4(TRPV3):c.*576A>T rs138748634
NM_145068.4(TRPV3):c.*58C>T rs188455894
NM_145068.4(TRPV3):c.*631A>G rs886052851
NM_145068.4(TRPV3):c.*63C>G rs545886104
NM_145068.4(TRPV3):c.*64_*65TG[1] rs10573788
NM_145068.4(TRPV3):c.*656G>T rs7208811
NM_145068.4(TRPV3):c.*74G>C rs886052854
NM_145068.4(TRPV3):c.*752dup rs886052850
NM_145068.4(TRPV3):c.*837A>G rs758698680
NM_145068.4(TRPV3):c.*842A>G rs767061806
NM_145068.4(TRPV3):c.*84G>A rs146188912
NM_145068.4(TRPV3):c.*85A>G rs886052853
NM_145068.4(TRPV3):c.*88G>A rs906418
NM_145068.4(TRPV3):c.*902T>G rs7209047
NM_145068.4(TRPV3):c.*92A>C rs886052852
NM_145068.4(TRPV3):c.*940G>A rs10852861
NM_145068.4(TRPV3):c.*949T>A rs55875649
NM_145068.4(TRPV3):c.-2-8T>C rs762080322
NM_145068.4(TRPV3):c.1044C>T (p.Ala348=) rs139733808
NM_145068.4(TRPV3):c.1050G>A (p.Lys350=) rs141575082
NM_145068.4(TRPV3):c.1063G>A (p.Glu355Lys) rs747712652
NM_145068.4(TRPV3):c.1066-5C>G rs778105648
NM_145068.4(TRPV3):c.1078A>C (p.Ile360Leu) rs767689187
NM_145068.4(TRPV3):c.1083C>T (p.Leu361=) rs193231694
NM_145068.4(TRPV3):c.1105C>T (p.Arg369Trp) rs116535534
NM_145068.4(TRPV3):c.119+10G>A rs182566183
NM_145068.4(TRPV3):c.1236C>T (p.Asn412=) rs141578451
NM_145068.4(TRPV3):c.1243-4C>T rs886052856
NM_145068.4(TRPV3):c.1258C>T (p.Leu420=) rs199598561
NM_145068.4(TRPV3):c.1401+9G>T rs550564945
NM_145068.4(TRPV3):c.1419G>C (p.Leu473Phe) rs56169438
NM_145068.4(TRPV3):c.1435A>T (p.Met479Leu) rs114131791
NM_145068.4(TRPV3):c.1503+13C>G rs141061726
NM_145068.4(TRPV3):c.1503+15C>T rs369415284
NM_145068.4(TRPV3):c.1504-15C>T rs200955758
NM_145068.4(TRPV3):c.1622T>C (p.Leu541Ser) rs764913664
NM_145068.4(TRPV3):c.1654G>A (p.Val552Met) rs150743616
NM_145068.4(TRPV3):c.1659G>A (p.Leu553=) rs746336365
NM_145068.4(TRPV3):c.1698G>A (p.Thr566=) rs113716355
NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val)
NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) rs199473704
NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) rs199473704
NM_145068.4(TRPV3):c.1878C>T (p.Ser626=) rs12946883
NM_145068.4(TRPV3):c.1882G>A (p.Ala628Thr) rs75319568
NM_145068.4(TRPV3):c.1923C>T (p.Asp641=) rs7216486
NM_145068.4(TRPV3):c.2011A>G (p.Asn671Asp) rs886052855
NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) rs786205868
NM_145068.4(TRPV3):c.2034C>T (p.Gly678=) rs201663049
NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) rs199473705
NM_145068.4(TRPV3):c.20A>G (p.Glu7Gly) rs779977306
NM_145068.4(TRPV3):c.224+8C>T rs113563330
NM_145068.4(TRPV3):c.2278+10C>T rs112791047
NM_145068.4(TRPV3):c.2279-15T>A rs72809877
NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile) rs7212634
NM_145068.4(TRPV3):c.2331T>C (p.Asn777=) rs74362949
NM_145068.4(TRPV3):c.2358G>T (p.Pro786=) rs75372730
NM_145068.4(TRPV3):c.270G>A (p.Gln90=) rs1039519
NM_145068.4(TRPV3):c.349A>G (p.Arg117Gly) rs322937
NM_145068.4(TRPV3):c.394G>A (p.Val132Met) rs8066242
NM_145068.4(TRPV3):c.395T>C (p.Val132Ala) rs139870087
NM_145068.4(TRPV3):c.442C>G (p.Arg148Gly) rs760726969
NM_145068.4(TRPV3):c.489G>A (p.Thr163=) rs771432151
NM_145068.4(TRPV3):c.501G>A (p.Thr167=) rs780723914
NM_145068.4(TRPV3):c.558A>C (p.Ile186=) rs11078458
NM_145068.4(TRPV3):c.592G>A (p.Asp198Asn) rs78615718
NM_145068.4(TRPV3):c.615C>T (p.Asn205=) rs372599650
NM_145068.4(TRPV3):c.6A>C (p.Lys2Asn) rs886052857
NM_145068.4(TRPV3):c.72C>T (p.Ala24=) rs116068630
NM_145068.4(TRPV3):c.73A>G (p.Ile25Val) rs322965
NM_145068.4(TRPV3):c.807A>G (p.Ala269=) rs75487373
NM_145068.4(TRPV3):c.881C>A (p.Ser294Ter) rs1085307103
NM_145068.4(TRPV3):c.936G>A (p.Thr312=) rs395357
NM_145068.4(TRPV3):c.956G>A (p.Arg319His) rs151284467
NM_145068.4(TRPV3):c.958A>G (p.Met320Val) rs142326624
NM_145068.4(TRPV3):c.95C>G (p.Ala32Gly) rs115770751
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.386G>A (p.Trp129Ter) rs148182439
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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