ClinVar Miner

List of variants reported as not provided for ectodermal dysplasia syndrome by GeneReviews

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321 0.00077
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322 0.00058
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_198253.3(TERT):c.2178G>A (p.Thr726=) rs199422288 0.00011
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
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_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550 0.00001
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) rs199422249 0.00001
NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr) rs1475705727 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 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
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter) rs121918543
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.847C>G (p.Pro283Ala) rs199422311
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) rs199422311
NM_001099274.3(TINF2):c.848C>A (p.Pro283His) rs199422313
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser) rs199422318
NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly) rs199422319
NM_001099274.3(TINF2):c.892del (p.Gln298fs) rs199422320
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
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.1150C>T (p.Pro384Ser) rs199422250
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) rs199422251
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) rs199422253
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) rs199422243
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile) rs199422244
NM_001363.5(DKC1):c.204C>A (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu) rs199422242
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) rs199422246
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) rs199422247
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) rs137854491
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) rs199422248
NM_001363.5(DKC1):c.949C>G (p.Leu317Val) rs121912290
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala) rs869025606
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del) rs869025607
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del
NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs) rs1554596430
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) rs1554596393
NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter) rs1554596391
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) rs1554596328
NM_014112.5(TRPS1):c.1231dup (p.Gln411fs) rs1554596300
NM_014112.5(TRPS1):c.1460del (p.Lys487fs) rs1554596193
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter) rs1554595930
NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter) rs1554595857
NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs) rs1554593099
NM_014112.5(TRPS1):c.2355_2356del (p.Lys786fs) rs1554592995
NM_014112.5(TRPS1):c.2394dup (p.Ser799fs) rs1554592981
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) rs121908432
NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr) rs1554617581
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro) rs1554617573
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) rs121908435
NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro) rs121908435
NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs) rs1554617567
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val) rs1554617561
NM_014112.5(TRPS1):c.2823+1G>T rs1554617549
NM_014112.5(TRPS1):c.2824-23T>G rs752405769
NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs) rs1554617078
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.2981_2984del (p.Glu994fs) rs1554617011
NM_014112.5(TRPS1):c.3077del (p.Ser1026fs) rs1554616971
NM_014112.5(TRPS1):c.3140del (p.Pro1047fs) rs1554616950
NM_014112.5(TRPS1):c.3424del (p.Ser1142fs) rs1554616802
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_020779.4(WDR35):c.1844A>G (p.Glu615Gly) rs267607174
NM_022336.4(EDAR):c.803+1G>A rs797044437
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
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.401A>G (p.Tyr134Cys) rs727504370
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.955del (p.Glu319fs) rs397515567
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) rs121908116
NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del) rs397515575
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_198253.3(TERT):c.1378_1380del (p.Gln460del) rs199422292
NM_198253.3(TERT):c.2029G>T (p.Gly677Cys) rs199422296
NM_198253.3(TERT):c.2045G>A (p.Gly682Asp) rs199422295
NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) rs199422299
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.