ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by OMIM

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 490
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00229
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro) rs202181446 0.00037
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00030
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter) rs200446614 0.00009
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) rs147962513 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NC_000009.12:g.35658031_35658040dup rs1554651507 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_004278.4(PIGL):c.427-1G>A rs770084126 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NM_000165.5(GJA1):c.227G>A (p.Arg76His) rs267606844 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_020779.4(WDR35):c.25-2A>G rs397515534 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) rs773955314 0.00002
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter) rs387906973 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_004990.4(MARS1):c.1201G>A (p.Val401Met) rs774447812 0.00002
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) rs150374247 0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_138701.4(MPLKIP):c.277del (p.Ser93fs) rs587776532 0.00002
NM_144991.3(TSPEAR):c.1852T>A (p.Tyr618Asn) rs781868760 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364 0.00002
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022 0.00001
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) rs267607391 0.00001
NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter) rs121918354 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_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550 0.00001
NM_001218.5(CA12):c.427G>A (p.Glu143Lys) rs267606694 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile) rs769394060 0.00001
NM_001793.6(CDH3):c.1508G>A (p.Arg503His) rs121434542 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_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658 0.00001
NM_002582.4(PARN):c.918+1G>T rs756132866 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser) rs530999984 0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) rs748090019 0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869 0.00001
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro) rs397515533 0.00001
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) rs267607175 0.00001
NM_022336.4(EDAR):c.1124G>A (p.Arg375His) rs121908454 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala) rs121908455 0.00001
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) rs387907146 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln) rs267606991 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val) rs137853117 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.707-2A>G rs1302074641 0.00001
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) rs137852926 0.00001
NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter) rs749888012 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) rs199422301 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
EDA, 1-BP DEL, EX6
EDA, 36-BP DEL, EX5
IKBKG, 2-BP DEL, 1182TT
NC_000002.12:g.(?_108894471)_(108989220_?)del
NC_000003.12:g.169763867_169764687del rs1553915517
NC_000007.14:g.(40116368_?)_(?_40134601)del
NC_000009.12:g.35658018_35658034dup rs878853178
NC_000009.12:g.35658021GTCCTCAGCTTC[3] rs1554651400
NC_000022.10:g.29758984_29815476del
NC_000023.11:g.(154556377_154558531)_(154565046_?)del
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NG_009896.1:g.19984_24446dup
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) rs1562173999
NM_000165.5(GJA1):c.154_156dup (p.Phe52dup) rs1582558097
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.23G>T (p.Gly8Val) rs864309644
NM_000165.5(GJA1):c.286G>A (p.Val96Met) rs28931601
NM_000165.5(GJA1):c.31C>T (p.Leu11Phe) rs387906616
NM_000165.5(GJA1):c.32T>C (p.Leu11Pro) rs121912969
NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser) rs104893961
NM_000165.5(GJA1):c.52T>C (p.Ser18Pro) rs104893962
NM_000165.5(GJA1):c.581A>C (p.His194Pro) rs104893966
NM_000165.5(GJA1):c.617A>G (p.Lys206Arg) rs397518464
NM_000165.5(GJA1):c.61G>A (p.Gly21Arg) rs104893963
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) rs104893964
NM_000165.5(GJA1):c.689_690del (p.Tyr230fs) rs1582558514
NM_000165.5(GJA1):c.780_781del (p.Cys260fs) rs1582558666
NM_000165.5(GJA1):c.97C>T (p.Arg33Ter) rs121912970
NM_000526.5(KRT14):c.17del (p.Arg6fs) rs267607390
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter) rs60831116
NM_001005337.3(PKP1):c.1107_1134dup (p.Val379fs)
NM_001005337.3(PKP1):c.1233-2A>G rs1558193923
NM_001005337.3(PKP1):c.1233-2A>T rs1558193923
NM_001005337.3(PKP1):c.2021+1G>A rs1571564381
NM_001005337.3(PKP1):c.889del (p.Arg297fs) rs1571557821
NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser) rs1057524917
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter) rs2046518776
NM_001071.4(TYMS):c.480A>T (p.Gln160His) rs894600614
NM_001071.4(TYMS):c.486_487del (p.Arg163fs) rs2144335544
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter) rs2144335824
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter) rs1555057581
NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter) rs1277132301
NM_001085458.2(CTNND1):c.606del (p.Pro203fs) rs1555053981
NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter) rs387907153
NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter) rs387907154
NM_001099274.3(TINF2):c.826del (p.Arg276fs) rs863223324
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.3(TINF2):c.839del (p.Lys280fs) rs1594551449
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099857.5(IKBKG):c.1049dup (p.Ala351fs) rs2148385141
NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs) rs1569556615
NM_001099857.5(IKBKG):c.1117+1G>A rs2071161458
NM_001099857.5(IKBKG):c.1117+5G>C rs1557236796
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs) rs2071167272
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001099857.5(IKBKG):c.1171G>T (p.Glu391Ter) rs137853324
NM_001099857.5(IKBKG):c.1207C>T (p.Gln403Ter) rs137853329
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs) rs2070949441
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val) rs137853327
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_001099857.5(IKBKG):c.1249T>C (p.Cys417Arg) rs137853325
NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe) rs137853326
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp) rs137853321
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter) rs137853323
NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg) rs137853328
NM_001099857.5(IKBKG):c.518+866C>T rs2071101767
NM_001099857.5(IKBKG):c.768+5G>A rs1569556603
NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly) rs137853330
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu) rs104894416
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001114980.2(TP63):c.16A>C (p.Asn6His) rs113993963
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_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu) rs587776998
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His) rs587776999
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg) rs587776999
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu) rs587776999
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro) rs587777001
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln) rs587777000
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro) rs587777002
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001218.5(CA12):c.363C>A (p.His121Gln) rs775067652
NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs) rs879253800
NM_001271893.4(TWIST2):c.168del (p.Ser57fs) rs1574742341
NM_001271893.4(TWIST2):c.193C>T (p.Gln65Ter) rs387906974
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln) rs1553565140
NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala) rs1553565143
NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup) rs869320750
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1773G>T (p.Glu591Asp) rs398123051
NM_001283009.2(RTEL1):c.1861G>A (p.Ala621Thr) rs398123052
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter) rs1555811762
NM_001283009.2(RTEL1):c.2097C>G (p.Ile699Met) rs398123048
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2216G>T (p.Gly739Val) rs398123016
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) rs786205702
NM_001283009.2(RTEL1):c.602del (p.Gly201fs) rs863223336
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001323.4(CST6):c.361C>T (p.Gln121Ter) rs1590674994
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.1259+1G>A rs1569558616
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.16+592C>G rs1603429348
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter) rs132630318
NM_001399.5(EDA):c.187G>A (p.Glu63Lys) rs132630311
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.573_574insT (p.Gly192fs) rs1569404873
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.671G>C (p.Gly224Ala) rs132630316
NM_001399.5(EDA):c.67C>T (p.Gln23Ter) rs132630310
NM_001399.5(EDA):c.755A>T (p.His252Leu) rs879255552
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.912_913dup (p.Ser305fs) rs1569406514
NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr) rs769778018
NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala) rs1312337697
NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr) rs2152149706
NM_001793.6(CDH3):c.830del (p.Gly277fs) rs724159985
NM_001793.6(CDH3):c.965A>T (p.Asn322Ile) rs121434543
NM_001793.6(CDH3):c.981del (p.Met327fs) rs724159984
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.1235A>G (p.Tyr412Cys) rs28937571
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_001854.4(COL11A1):c.3814_3816+1del rs2101038943
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3816+2dup rs1469787406
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) rs875989846
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) rs875989847
NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs) rs1565766888
NM_002448.3(MSX1):c.623C>A (p.Ser208Ter) rs104893853
NM_002582.3(PARN):c.962+295_1263-8706del
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.863dup (p.Asn288fs) rs786201001
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002855.5(NECTIN1):c.400C>T (p.Arg134Ter) rs769476648
NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) rs104894281
NM_002855.5(NECTIN1):c.556del (p.Glu186fs) rs876657374
NM_002855.5(NECTIN1):c.969dup (p.Thr324fs) rs878853255
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) rs121908845
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) rs121908842
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) rs121908843
NM_003722.5(TP63):c.1693_1694del (p.Phe565fs) rs2108864814
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) rs121908846
NM_003722.5(TP63):c.1827del (p.Glu609fs) rs2108873431
NM_003722.5(TP63):c.1833_1843dup (p.His615fs)
NM_003722.5(TP63):c.1861del (p.Ser621fs) rs1721306735
NM_003722.5(TP63):c.1900del (p.Arg634fs) rs2108874029
NM_003722.5(TP63):c.1927C>T (p.Arg643Ter) rs1560311554
NM_003722.5(TP63):c.1976del (p.Asn659fs) rs2108874645
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
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.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004278.4(PIGL):c.274del (p.Leu92fs) rs758633805
NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) rs139004722
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004360.5(CDH1):c.1320+1G>C rs886039685
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn) rs1555515925
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu) rs1555517099
NM_004360.5(CDH1):c.760G>T (p.Asp254Tyr) rs1555515445
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup) rs606231293
NM_004415.4(DSP):c.1847A>C (p.Gln616Pro) rs1184921987
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) rs1554107098
NM_004415.4(DSP):c.1990C>T (p.Gln664Ter) rs121912995
NM_004415.4(DSP):c.2427T>A (p.Cys809Ter) rs121912994
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.4778_4790del (p.Lys1593fs)
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_004415.4(DSP):c.7780del (p.Ser2594fs) rs397514045
NM_004415.4(DSP):c.861T>G (p.Asn287Lys) rs121912993
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005220.3(DLX3):c.561_562del (p.Tyr188fs) rs387906406
NM_005220.3(DLX3):c.571_574del (p.Gly191fs) rs387906405
NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer) rs2056406264
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) rs794726863
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) rs1553253990
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter) rs121908430
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs) rs2130444636
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs) rs2130444402
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) rs121908432
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter) rs121908434
NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs) rs2129748003
NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala) rs267607041
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp) rs267607039
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala) rs1983651325
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr) rs1984074001
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_017410.2(HOXC13):c.-24497_736+2389del
NM_017410.3(HOXC13):c.355del (p.Leu119fs) rs398122377
NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter) rs398122913
NM_017838.4(NHP2):c.376G>A (p.Val126Met) rs121908090
NM_017838.4(NHP2):c.415T>C (p.Tyr139His) rs121908089
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg) rs121908091
NM_018648.4(NOP10):c.100C>T (p.Arg34Trp) rs121908092
NM_020529.3(NFKBIA):c.101T>C (p.Leu34Pro)
NM_020529.3(NFKBIA):c.107C>A (p.Ser36Tyr) rs1566591076
NM_020529.3(NFKBIA):c.110T>A (p.Met37Lys) rs1566591073
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg) rs1566591073
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_020529.3(NFKBIA):c.40G>T (p.Glu14Ter) rs121913665
NM_020529.3(NFKBIA):c.94A>G (p.Ser32Gly) rs1566591086
NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn) rs28933100
NM_020529.3(NFKBIA):c.95G>T (p.Ser32Ile) rs28933100
NM_020529.3(NFKBIA):c.96C>G (p.Ser32Arg) rs1566591082
NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter) rs1569100177
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter) rs387906921
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn) rs387906922
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn) rs387906923
NM_020639.3(RIPK4):c.777dup (p.Arg260fs)
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) rs267607174
NM_020779.4(WDR35):c.2858del (p.Pro953fs) rs397515334
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys) rs1553313859
NM_021783.5(EDA2R):c.253del (p.Asp85fs) rs515726133
NM_022336.4(EDAR):c.51+1G>A rs797044435
NM_022336.4(EDAR):c.52-25_52-8del rs1558814967
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022336.4(EDAR):c.803+1G>A rs797044437
NM_022836.4(DCLRE1B):c.364C>T (p.Arg122Ter)
NM_022836.4(DCLRE1B):c.425T>C (p.Leu142Ser)
NM_022836.4(DCLRE1B):c.426A>T (p.Leu142Phe)
NM_024589.3(ROGDI):c.229_230del (p.Leu77fs) rs764899074
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) rs387907145
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.532-2A>T rs786205119
NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His) rs587777737
NM_024915.4(GRHL2):c.1445T>A (p.Ile482Lys) rs587777738
NM_025132.4(WDR19):c.2645+1G>T rs1237821935
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025132.4(WDR19):c.956del (p.Asn319fs) rs2109322891
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_030662.4(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter) rs1085307125
NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met) rs267606992
NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg) rs387907014
NM_030916.3(NECTIN4):c.724G>A (p.Val242Met) rs1085307124
NM_030916.3(NECTIN4):c.906del (p.Pro304fs) rs730880260
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.3(ANTXR1):c.1435-12A>G rs879255533
NM_032208.3(ANTXR1):c.262C>T (p.Arg88Ter) rs397514701
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_033360.4(KRAS):c.*22C>G rs104894362
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.211T>C (p.Tyr71His) rs387907205
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal) rs2083230922
NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp) rs2108740086
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs) rs587776531
NM_138701.4(MPLKIP):c.148_152del (p.His50fs) rs878854339
NM_144991.3(TSPEAR):c.1423G>C (p.Gly475Arg)
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_144991.3(TSPEAR):c.48del (p.Gly17fs)
NM_145861.4(EDARADD):c.120+1G>A rs879255553
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) rs121908116
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_152295.5(TARS1):c.680T>C (p.Leu227Pro) rs1579584983
NM_152295.5(TARS1):c.826A>G (p.Lys276Glu) rs1579585658
NM_152365.3(KDF1):c.753C>A (p.Phe251Leu) rs1057519508
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619
NM_172232.4(ABCA5):c.4320+1G>C rs199753304
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.3(TERT):c.3073G>T (p.Val1025Phe)
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter) rs1777038679
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys) rs1785841426
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter) rs1777036380
NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro) rs121434365
NR_001566.3(TERC):n.107_108delGCinsAG rs199476393
NR_001566.3(TERC):n.408C>G rs199422284
NR_001566.3(TERC):n.52_55delCTAA rs199422263
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-6_-5insCCTGAG rs1554651446
NR_003051.3(RMRP):n.-8_-7ins17 rs1554651469
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.97_98dup rs1340624774
P127L
RMRP, 1-BP DEL/21-BP INS, PROMOTER
TP63, VAL114MET

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