ClinVar Miner

List of variants reported as pathogenic for ectodermal dysplasia syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
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_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
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_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
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_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) rs199840434 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 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_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter) rs199643821 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs) rs1233791234 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 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_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 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_000400.4(ERCC2):c.139G>A (p.Gly47Arg) rs1360631927 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001399.5(EDA):c.1013C>T (p.Thr338Met) rs132630321 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 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.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) rs387907146 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NC_000009.12:g.35657872C>T rs753874439
NC_000023.11:g.70027876_70027911del rs397516665
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.361-1G>A
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_001854.4(COL11A1):c.2241+5G>T rs2101800665
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter) rs755987732
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
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.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
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.576del (p.Val193fs) rs747847191
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_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005220.3(DLX3):c.571_574del (p.Gly191fs) rs387906405
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_020779.4(WDR35):c.2858del (p.Pro953fs) rs397515334
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025216.3(WNT10A):c.1226_1230del (p.Ile409fs)
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter) rs886039454
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_052989.3(IFT122):c.2285del (p.Lys762fs) rs2081339145
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_147127.5(EVC2):c.2710C>T (p.Gln904Ter)
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411

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