ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Baylor Genetics

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 324
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00229
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_000400.4(ERCC2):c.1119-85G>A rs148028467 0.00129
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_030916.3(NECTIN4):c.1387C>G (p.Pro463Ala) rs142579218 0.00048
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_002582.4(PARN):c.466G>T (p.Ala156Ser) rs200103366 0.00038
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00036
NM_024589.3(ROGDI):c.859T>C (p.Phe287Leu) rs149138180 0.00036
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_198253.3(TERT):c.403G>A (p.Gly135Arg) rs200843534 0.00025
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_020529.3(NFKBIA):c.337-20G>A rs371120371 0.00021
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met) rs149145821 0.00020
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys) rs144697790 0.00019
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) rs529637184 0.00016
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) rs141425941 0.00016
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807 0.00014
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val) rs369712095 0.00013
NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser) rs372343704 0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) rs201828535 0.00011
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_198253.3(TERT):c.3332C>T (p.Thr1111Met) rs370686937 0.00010
NM_000400.4(ERCC2):c.1238-1192G>A rs180850149 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_017838.4(NHP2):c.394C>T (p.His132Tyr) rs146766601 0.00009
NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu) rs201330213 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_198253.3(TERT):c.569C>T (p.Ala190Val) rs781435225 0.00007
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) rs759116129 0.00006
NM_000400.4(ERCC2):c.491A>G (p.His164Arg) rs769656890 0.00006
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) rs147521473 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) rs145762413 0.00005
NM_147127.5(EVC2):c.3696G>T (p.Arg1232Ser) rs150551872 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) rs139884931 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.380G>A (p.Arg127Gln) rs769163032 0.00004
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter) rs768234938 0.00004
NM_020639.3(RIPK4):c.1511A>G (p.Gln504Arg) rs372327761 0.00004
NM_020779.4(WDR35):c.1637G>A (p.Arg546His) rs529313875 0.00004
NM_198253.3(TERT):c.1760T>C (p.Ile587Thr) rs148882731 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198253.3(TERT):c.2188G>A (p.Ala730Thr) rs761116773 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
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_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter) rs778734749 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_198253.3(TERT):c.1957C>T (p.Arg653Cys) rs372272356 0.00003
NM_198253.3(TERT):c.2221G>T (p.Val741Leu) rs150819225 0.00003
NM_198253.3(TERT):c.2387C>T (p.Ser796Phe) rs369810792 0.00003
NM_198253.3(TERT):c.2449G>A (p.Ala817Thr) rs778051907 0.00003
NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) rs370115857 0.00002
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His) rs371044766 0.00002
NM_004360.5(CDH1):c.1946C>T (p.Ser649Phe) rs1238607560 0.00002
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys) rs142927667 0.00002
NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp) rs764278537 0.00002
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) rs746128772 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg) rs1467471693 0.00002
NM_198253.3(TERT):c.2251G>A (p.Ala751Thr) rs772070672 0.00002
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp) rs202033269 0.00002
NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys) rs1042447238 0.00002
NM_000122.2(ERCC3):c.1457C>T (p.Pro486Leu) rs759152503 0.00001
NM_000122.2(ERCC3):c.1996G>A (p.Asp666Asn) rs587778275 0.00001
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) rs141457460 0.00001
NM_000400.4(ERCC2):c.1843G>A (p.Gly615Arg) rs1309347920 0.00001
NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile) rs763885481 0.00001
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) rs760820378 0.00001
NM_000400.4(ERCC2):c.595-10G>A rs761737358 0.00001
NM_001283009.2(RTEL1):c.1037+1G>T rs895722334 0.00001
NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys) rs1417269541 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) rs768188490 0.00001
NM_001283009.2(RTEL1):c.2142-2A>G rs2090696292 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.3190C>G (p.Leu1064Val) rs373448481 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_004278.4(PIGL):c.296T>G (p.Leu99Trp) rs1179113684 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile) rs587780120 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_024589.3(ROGDI):c.254C>T (p.Ala85Val) rs748119074 0.00001
NM_032208.3(ANTXR1):c.1105G>A (p.Gly369Ser) rs769332274 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser) rs762716384 0.00001
NM_198253.3(TERT):c.1339C>T (p.Arg447Cys) rs1304418053 0.00001
NM_198253.3(TERT):c.1514T>A (p.Leu505Gln) rs1344847833 0.00001
NM_198253.3(TERT):c.1589C>T (p.Pro530Leu) rs369539932 0.00001
NM_198253.3(TERT):c.1604G>A (p.Arg535His) rs768398955 0.00001
NM_198253.3(TERT):c.1615G>A (p.Glu539Lys) rs1203927893 0.00001
NM_198253.3(TERT):c.1624G>T (p.Ala542Ser) rs771542084 0.00001
NM_198253.3(TERT):c.1730G>A (p.Arg577Gln) rs1311034283 0.00001
NM_198253.3(TERT):c.1805C>T (p.Ser602Leu) rs759017540 0.00001
NM_198253.3(TERT):c.1880C>G (p.Pro627Arg) rs146439826 0.00001
NM_198253.3(TERT):c.1904A>G (p.Asn635Ser) rs1749924823 0.00001
NM_198253.3(TERT):c.1907T>C (p.Met636Thr) rs1060503010 0.00001
NM_198253.3(TERT):c.1924G>A (p.Ala642Thr) rs761603068 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.2015G>A (p.Arg672His) rs1353891039 0.00001
NM_198253.3(TERT):c.2213C>T (p.Thr738Met) rs1749789095 0.00001
NM_198253.3(TERT):c.2267G>A (p.Arg756His) rs374206276 0.00001
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln) rs1579564912 0.00001
NM_198253.3(TERT):c.2465G>A (p.Gly822Asp) rs757820442 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.260G>A (p.Arg87Lys) rs776383511 0.00001
NM_198253.3(TERT):c.2914C>T (p.Arg972Cys) rs773537902 0.00001
NM_198253.3(TERT):c.3208G>A (p.Val1070Met) rs1747569185 0.00001
NM_198253.3(TERT):c.3352G>A (p.Ala1118Thr) rs756628621 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.979G>C (p.Glu327Gln) rs371457181 0.00001
NM_000165.5(GJA1):c.1111G>A (p.Ala371Thr) rs1773918972
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) rs1773899790
NM_000400.4(ERCC2):c.1118+4C>T rs762719901
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs) rs1972045362
NM_000400.4(ERCC2):c.1832-3C>G rs1971859134
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
NM_001082486.1(ACD):c.58G>A (p.Ala20Thr) rs372927331
NM_001085458.2(CTNND1):c.1186C>G (p.Arg396Gly) rs533993840
NM_001085458.2(CTNND1):c.606del (p.Pro203fs) rs1555053981
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln) rs1232383398
NM_001143992.2(WRAP53):c.1168G>A (p.Ala390Thr) rs2151097173
NM_001143992.2(WRAP53):c.438G>A (p.Trp146Ter)
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln) rs1553565140
NM_001283009.2(RTEL1):c.1069A>T (p.Ile357Phe) rs2090446909
NM_001283009.2(RTEL1):c.1081del (p.Thr361fs)
NM_001283009.2(RTEL1):c.1236_1266+47del rs1568703403
NM_001283009.2(RTEL1):c.1249dup (p.Ala417fs)
NM_001283009.2(RTEL1):c.1255del (p.Gln419fs)
NM_001283009.2(RTEL1):c.1264A>T (p.Lys422Ter)
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
NM_001283009.2(RTEL1):c.1637-24_1637del
NM_001283009.2(RTEL1):c.1921G>A (p.Val641Met)
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.2026-2A>G
NM_001283009.2(RTEL1):c.2057dup (p.Ala687fs)
NM_001283009.2(RTEL1):c.2141+1G>T
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2142-1G>C
NM_001283009.2(RTEL1):c.2180G>A (p.Trp727Ter)
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2239_2251del (p.Gln747fs)
NM_001283009.2(RTEL1):c.2248del (p.Arg750fs)
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2364dup (p.Ala789fs)
NM_001283009.2(RTEL1):c.2413+1G>A
NM_001283009.2(RTEL1):c.2527C>T (p.Gln843Ter)
NM_001283009.2(RTEL1):c.2532_2533del (p.Ala845fs)
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter) rs2145434954
NM_001283009.2(RTEL1):c.2557-2A>G
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2608G>T (p.Glu870Ter)
NM_001283009.2(RTEL1):c.2653-1G>A
NM_001283009.2(RTEL1):c.2653-3_2653-1del
NM_001283009.2(RTEL1):c.2674C>T (p.Gln892Ter)
NM_001283009.2(RTEL1):c.2680del (p.Asp894fs)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2733del (p.Phe912fs)
NM_001283009.2(RTEL1):c.276del (p.Ala93fs)
NM_001283009.2(RTEL1):c.2807_2808delinsA (p.Gly936fs)
NM_001283009.2(RTEL1):c.2817_2821dup (p.Glu941fs)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2851+1G>T rs1421904176
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2992+1G>C
NM_001283009.2(RTEL1):c.302-1G>C
NM_001283009.2(RTEL1):c.302-2A>G
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3130del (p.Gln1044fs)
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3283G>A (p.Val1095Met) rs757602436
NM_001283009.2(RTEL1):c.3406_3409dup (p.Gly1137fs)
NM_001283009.2(RTEL1):c.3412C>T (p.Arg1138Trp) rs6062495
NM_001283009.2(RTEL1):c.3500-1G>A rs1205986855
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3650G>A (p.Trp1217Ter)
NM_001283009.2(RTEL1):c.396-59del
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.478-2A>G
NM_001283009.2(RTEL1):c.614+1G>C
NM_001283009.2(RTEL1):c.619dup (p.Cys207fs)
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.820_827del (p.Ser274fs)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.919+1G>T
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001793.6(CDH3):c.958G>A (p.Asp320Asn)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)
NM_002582.4(PARN):c.1285G>A (p.Asp429Asn) rs1967639910
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr) rs1057519732
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002855.5(NECTIN1):c.328C>T (p.Arg110Cys) rs754922587
NM_004004.6(GJB2):c.263C>T (p.Ala88Val) rs1555341945
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004360.5(CDH1):c.1107C>A (p.Asn369Lys)
NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter) rs1554108283
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs) rs1759489644
NM_004415.4(DSP):c.7460T>C (p.Leu2487Pro) rs1759571794
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr)
NM_006978.3(RNF113A):c.484T>C (p.Tyr162His) rs2056408187
NM_006978.3(RNF113A):c.76G>A (p.Gly26Arg) rs369106726
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) rs1553253990
NM_013386.5(SLC25A24):c.812_822+1del rs1679855807
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser) rs1812867470
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr) rs2145105580
NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys) rs2071375286
NM_015559.3(SETBP1):c.4438G>A (p.Asp1480Asn)
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu) rs1460336485
NM_030662.4(MAP2K2):c.300G>T (p.Arg100Ser) rs2041236830
NM_030916.3(NECTIN4):c.1478G>C (p.Arg493Pro) rs753298397
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_138701.4(MPLKIP):c.49G>A (p.Gly17Ser) rs201269559
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs) rs1569151872
NM_144991.3(TSPEAR):c.789T>G (p.Tyr263Ter) rs966162330
NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) rs1659704734
NM_147127.5(EVC2):c.1374T>G (p.Cys458Trp) rs1717255624
NM_147127.5(EVC2):c.2959G>A (p.Ala987Thr) rs750392808
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro) rs1729675412
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.493A>G (p.Ser165Gly) rs1259803475
NM_198253.3(TERT):c.-124C>T rs1242535815
NM_198253.3(TERT):c.1046C>T (p.Ser349Phe) rs904848231
NM_198253.3(TERT):c.1055C>G (p.Pro352Arg)
NM_198253.3(TERT):c.1142G>A (p.Arg381His) rs777343359
NM_198253.3(TERT):c.1210C>G (p.Pro404Ala) rs1561213668
NM_198253.3(TERT):c.1211C>G (p.Pro404Arg) rs1060503008
NM_198253.3(TERT):c.1255_1257delinsTTT (p.Val419Phe)
NM_198253.3(TERT):c.1315G>C (p.Glu439Gln) rs747463378
NM_198253.3(TERT):c.1322_1336dup (p.Pro445_Arg446insGlnAspThrAspPro)
NM_198253.3(TERT):c.1336C>T (p.Arg446Cys) rs567650961
NM_198253.3(TERT):c.1358G>A (p.Arg453His)
NM_198253.3(TERT):c.1411C>T (p.Arg471Trp) rs750721558
NM_198253.3(TERT):c.1417G>C (p.Val473Leu) rs1554042817
NM_198253.3(TERT):c.1469A>G (p.Asn490Ser)
NM_198253.3(TERT):c.1562G>A (p.Arg521His)
NM_198253.3(TERT):c.1565G>A (p.Arg522Lys) rs1751108994
NM_198253.3(TERT):c.1625C>T (p.Ala542Val) rs1579580180
NM_198253.3(TERT):c.1715G>A (p.Arg572Lys)
NM_198253.3(TERT):c.1814A>G (p.Glu605Gly)
NM_198253.3(TERT):c.1828C>T (p.Arg610Trp) rs747940807
NM_198253.3(TERT):c.193C>A (p.Pro65Thr) rs544215765
NM_198253.3(TERT):c.194C>T (p.Pro65Leu) rs1561215067
NM_198253.3(TERT):c.1951-2A>C
NM_198253.3(TERT):c.1978G>T (p.Ala660Ser)
NM_198253.3(TERT):c.1988G>A (p.Ser663Asn)
NM_198253.3(TERT):c.2087_2088delinsAG (p.Arg696Gln)
NM_198253.3(TERT):c.2120A>G (p.Tyr707Cys)
NM_198253.3(TERT):c.214C>T (p.Arg72Cys) rs943289163
NM_198253.3(TERT):c.2158A>G (p.Ile720Val)
NM_198253.3(TERT):c.219+2T>A
NM_198253.3(TERT):c.2209A>G (p.Asn737Asp) rs933160193
NM_198253.3(TERT):c.221T>A (p.Val74Glu) rs1751273218
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.2224C>T (p.Arg742Cys)
NM_198253.3(TERT):c.2329G>T (p.Val777Leu)
NM_198253.3(TERT):c.2382+28C>T
NM_198253.3(TERT):c.2402C>T (p.Ala801Val)
NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys)
NM_198253.3(TERT):c.2455C>A (p.Arg819Ser) rs746621306
NM_198253.3(TERT):c.2468+103G>A
NM_198253.3(TERT):c.2470T>C (p.Ser824Pro)
NM_198253.3(TERT):c.2550G>T (p.Glu850Asp)
NM_198253.3(TERT):c.261G>T (p.Arg87Ser) rs1033845124
NM_198253.3(TERT):c.2626C>A (p.His876Asn) rs1483412488
NM_198253.3(TERT):c.270G>C (p.Glu90Asp)
NM_198253.3(TERT):c.2775C>A (p.His925Gln) rs34528119
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln) rs199741493
NM_198253.3(TERT):c.3154G>T (p.Ala1052Ser)
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser) rs938938578
NM_198253.3(TERT):c.3307C>G (p.Leu1103Val)
NM_198253.3(TERT):c.3338C>T (p.Thr1113Ile) rs1404530857
NM_198253.3(TERT):c.3356C>G (p.Ala1119Gly)
NM_198253.3(TERT):c.371C>T (p.Pro124Leu)
NM_198253.3(TERT):c.4C>G (p.Pro2Ala) rs1751303585
NM_198253.3(TERT):c.592G>C (p.Gly198Arg) rs758442518
NM_198253.3(TERT):c.628G>A (p.Ala210Thr) rs1751225599
NM_198253.3(TERT):c.670C>G (p.Arg224Gly) rs750497661
NM_198253.3(TERT):c.698C>T (p.Pro233Leu)
NM_198253.3(TERT):c.799G>C (p.Asp267His)
NM_198253.3(TERT):c.82G>C (p.Val28Leu) rs1060503000
NM_198253.3(TERT):c.878G>T (p.Arg293Leu) rs1309920442
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980

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.