ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161 0.00953
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu) rs564647937 0.00007
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln) rs375593361 0.00006
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met) rs778675789 0.00004
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile) rs1181866888 0.00002
NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) rs749849244 0.00001
NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val) rs762936013 0.00001
NM_001283009.2(RTEL1):c.2098C>T (p.Arg700Trp) rs1003156687 0.00001
NM_001283009.2(RTEL1):c.2114A>G (p.Tyr705Cys) rs2090684972 0.00001
NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys) rs761902346 0.00001
NM_001082486.2(ACD):c.100G>A (p.Val34Ile) rs2052973227
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del) rs779176651
NM_001283009.2(RTEL1):c.2223del (p.Ile742fs) rs2090699166
NM_001283009.2(RTEL1):c.2924G>A (p.Gly975Asp)
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His) rs534046818
NM_001283009.2(RTEL1):c.2944C>T (p.His982Tyr)
NM_001283009.2(RTEL1):c.3143G>A (p.Gly1048Glu)
NM_001283009.2(RTEL1):c.3437C>G (p.Pro1146Arg) rs749331637
NM_001283009.2(RTEL1):c.3874del (p.Met1292fs)
NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer) rs2146141332
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_198253.3(TERT):c.1122_1134del (p.Thr375fs) rs1751159700
NM_198253.3(TERT):c.1151A>T (p.Gln384Leu) rs1167344136
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu) rs1060503002
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930

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