ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Sema4, Sema4

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 325
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00229
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758 0.00166
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=) rs114292675 0.00144
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372 0.00140
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=) rs138074015 0.00128
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_017838.4(NHP2):c.270A>G (p.Val90=) rs148179279 0.00121
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018 0.00106
NM_001283009.2(RTEL1):c.395+12G>A rs201572070 0.00106
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu) rs140986557 0.00096
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=) rs368176460 0.00086
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_001283009.2(RTEL1):c.1348+6G>A rs371358328 0.00083
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406 0.00079
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321 0.00077
NM_001283009.2(RTEL1):c.1349-13C>T rs376698655 0.00068
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn) rs116247954 0.00062
NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=) rs147894642 0.00062
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_198253.3(TERT):c.1953C>T (p.Ala651=) rs201088708 0.00054
NM_198253.3(TERT):c.3351C>T (p.Ala1117=) rs192377676 0.00052
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001283009.2(RTEL1):c.1371C>T (p.Cys457=) rs138399496 0.00046
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=) rs116788553 0.00045
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 0.00044
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001283009.2(RTEL1):c.1482-7C>T rs189271525 0.00043
NM_025099.6(CTC1):c.3221+13G>C rs115684610 0.00041
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_001283009.2(RTEL1):c.612C>T (p.His204=) rs142711955 0.00040
NM_198253.3(TERT):c.1968G>A (p.Ser656=) rs368784316 0.00039
NM_017838.4(NHP2):c.190G>A (p.Val64Met) rs79031130 0.00038
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=) rs116502880 0.00035
NM_001283009.2(RTEL1):c.2796C>T (p.Ala932=) rs143740470 0.00035
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_001283009.2(RTEL1):c.489C>T (p.Cys163=) rs142058793 0.00032
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala) rs138500086 0.00031
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=) rs374320783 0.00030
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00030
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833 0.00028
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863 0.00024
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=) rs187238540 0.00024
NM_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_001363.5(DKC1):c.915+8C>T rs200156434 0.00023
NM_001283009.2(RTEL1):c.1595+9C>T rs370145267 0.00022
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=) rs199578945 0.00022
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met) rs141717966 0.00021
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=) rs78258482 0.00020
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=) rs140564753 0.00020
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025099.6(CTC1):c.1479A>G (p.Gln493=) rs188654013 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=) rs140738232 0.00016
NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu) rs149537474 0.00015
NM_001363.5(DKC1):c.1362A>G (p.Glu454=) rs782342369 0.00015
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr) rs35653076 0.00014
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys) rs374441172 0.00014
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001283009.2(RTEL1):c.2874C>A (p.Pro958=) rs369953611 0.00012
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser) rs150686112 0.00012
NM_001099274.3(TINF2):c.492A>G (p.Thr164=) rs781353658 0.00011
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala) rs778102066 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.3239T>C (p.Leu1080Ser) rs770243852 0.00011
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg) rs376632263 0.00011
NM_017838.4(NHP2):c.72C>T (p.Tyr24=) rs202221169 0.00011
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_198253.3(TERT):c.3186C>T (p.Ala1062=) rs201067706 0.00011
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_001363.5(DKC1):c.600C>T (p.Tyr200=) rs781789313 0.00010
NM_198253.3(TERT):c.1656C>T (p.Tyr552=) rs143789839 0.00010
NM_198253.3(TERT):c.1983G>A (p.Leu661=) rs375454175 0.00010
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val) rs201787600 0.00009
NM_001283009.2(RTEL1):c.1395C>T (p.His465=) rs376423914 0.00009
NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=) rs140629792 0.00009
NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=) rs147245368 0.00009
NM_001283009.2(RTEL1):c.3585G>A (p.Ala1195=) rs368887784 0.00009
NM_017838.4(NHP2):c.394C>T (p.His132Tyr) rs146766601 0.00009
NM_025099.6(CTC1):c.50A>G (p.Glu17Gly) rs200054513 0.00009
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.2019C>T (p.Pro673=) rs762941707 0.00009
NM_198253.3(TERT):c.3363G>A (p.Pro1121=) rs750020682 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473 0.00008
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=) rs146666432 0.00008
NM_001283009.2(RTEL1):c.3107C>G (p.Thr1036Arg) rs138576158 0.00008
NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val) rs202157063 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_198253.3(TERT):c.2139G>A (p.Val713=) rs775722062 0.00008
NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser) rs545606632 0.00007
NM_001283009.2(RTEL1):c.3630C>T (p.His1210=) rs564198378 0.00007
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=) rs375849124 0.00007
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134 0.00007
NM_001283009.2(RTEL1):c.12A>C (p.Ile4=) rs779748543 0.00006
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=) rs752413439 0.00006
NM_001283009.2(RTEL1):c.2748C>T (p.Thr916=) rs146662746 0.00006
NM_001363.5(DKC1):c.1167G>A (p.Lys389=) rs369066088 0.00006
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys) rs759152295 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.2510G>C (p.Cys837Ser) rs377390001 0.00006
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly) rs202226502 0.00006
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) rs147521473 0.00006
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.3109+5C>T rs372267276 0.00005
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met) rs116768542 0.00005
NM_001283009.2(RTEL1):c.3221C>T (p.Ala1074Val) rs370571374 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_025099.6(CTC1):c.1051C>T (p.Arg351Trp) rs374781255 0.00005
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr) rs369721966 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_025099.6(CTC1):c.648-9C>T rs779778738 0.00005
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met) rs764602705 0.00005
NM_001099274.3(TINF2):c.819C>T (p.Ala273=) rs376845893 0.00004
NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=) rs751146876 0.00004
NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val) rs745535053 0.00004
NM_001283009.2(RTEL1):c.2279C>T (p.Ala760Val) rs761666401 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr) rs543685758 0.00004
NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=) rs373347391 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3522C>T (p.Thr1174=) rs200086502 0.00004
NM_001283009.2(RTEL1):c.3584C>T (p.Ala1195Val) rs778286683 0.00004
NM_001283009.2(RTEL1):c.3876G>A (p.Met1292Ile) rs199760510 0.00004
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met) rs778675789 0.00004
NM_001283009.2(RTEL1):c.903G>A (p.Ala301=) rs377191081 0.00004
NM_025099.6(CTC1):c.1542A>G (p.Leu514=) rs369802087 0.00004
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949 0.00004
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906 0.00004
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile) rs377491661 0.00004
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser) rs551522837 0.00004
NM_198253.3(TERT):c.2255A>G (p.His752Arg) rs375699185 0.00004
NM_198253.3(TERT):c.2469-9C>T rs764029536 0.00004
NM_198253.3(TERT):c.2793C>T (p.Cys931=) rs764925909 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_001283009.2(RTEL1):c.103-13G>A rs183862736 0.00003
NM_001283009.2(RTEL1):c.2561A>C (p.His854Pro) rs747542418 0.00003
NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser) rs776712596 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile) rs201992738 0.00003
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp) rs942254441 0.00003
NM_001283009.2(RTEL1):c.490C>T (p.Arg164Cys) rs752046445 0.00003
NM_025099.6(CTC1):c.2244C>T (p.Val748=) rs758516017 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_198253.3(TERT):c.2145C>T (p.Gly715=) rs769467251 0.00003
NM_198253.3(TERT):c.3033-13G>A rs746630679 0.00003
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met) rs763381198 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_001099274.3(TINF2):c.1060G>A (p.Glu354Lys) rs992428548 0.00002
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989 0.00002
NM_001283009.2(RTEL1):c.1723-13C>T rs751640004 0.00002
NM_001283009.2(RTEL1):c.2512C>G (p.Leu838Val) rs996529824 0.00002
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=) rs201784607 0.00002
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.3102C>T (p.Pro1034=) rs201356718 0.00002
NM_017838.4(NHP2):c.235A>T (p.Met79Leu) rs377700562 0.00002
NM_017838.4(NHP2):c.289_290del (p.Met97fs) rs762821341 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025099.6(CTC1):c.591C>T (p.Pro197=) rs538242855 0.00002
NM_025099.6(CTC1):c.874C>T (p.Arg292Cys) rs1013688033 0.00002
NM_198253.3(TERT):c.1422C>T (p.Pro474=) rs139133620 0.00002
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) rs768168259 0.00002
NM_198253.3(TERT):c.672C>T (p.Arg224=) rs996032219 0.00002
NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) rs749849244 0.00001
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=) rs1178822970 0.00001
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00001
NM_001283009.2(RTEL1):c.1839G>A (p.Gly613=) rs757075776 0.00001
NM_001283009.2(RTEL1):c.1869C>T (p.Cys623=) rs1405032353 0.00001
NM_001283009.2(RTEL1):c.2409C>G (p.Ser803=) rs764351692 0.00001
NM_001283009.2(RTEL1):c.2795C>T (p.Ala932Val) rs1239433355 0.00001
NM_001283009.2(RTEL1):c.3076A>C (p.Arg1026=) rs148099608 0.00001
NM_001283009.2(RTEL1):c.3268G>A (p.Asp1090Asn) rs761447586 0.00001
NM_001283009.2(RTEL1):c.3325G>A (p.Asp1109Asn) rs764303844 0.00001
NM_001283009.2(RTEL1):c.3552C>T (p.Phe1184=) rs760713860 0.00001
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala) rs199685200 0.00001
NM_001283009.2(RTEL1):c.539-6C>A rs778544732 0.00001
NM_001363.5(DKC1):c.264-8C>A rs1557264149 0.00001
NM_001363.5(DKC1):c.537C>G (p.Ala179=) rs782697778 0.00001
NM_025099.6(CTC1):c.1078-13G>A rs200325111 0.00001
NM_025099.6(CTC1):c.1092C>T (p.Gly364=) rs761668228 0.00001
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile) rs191350236 0.00001
NM_025099.6(CTC1):c.1360G>A (p.Glu454Lys) rs774972007 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala) rs578120516 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.1646T>C (p.Phe549Ser) rs1019443155 0.00001
NM_025099.6(CTC1):c.1650C>T (p.Pro550=) rs368449753 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys) rs758151645 0.00001
NM_025099.6(CTC1):c.3293G>A (p.Gly1098Glu) rs1986954991 0.00001
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys) rs761553012 0.00001
NM_025099.6(CTC1):c.744T>G (p.Ser248=) rs1219363352 0.00001
NM_025099.6(CTC1):c.793-13C>G rs957555496 0.00001
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn) rs1279397908 0.00001
NM_198253.3(TERT):c.1657G>A (p.Val553Ile) rs749051614 0.00001
NM_198253.3(TERT):c.1890G>T (p.Leu630=) rs1749926290 0.00001
NM_198253.3(TERT):c.2250C>T (p.Ala750=) rs941567959 0.00001
NM_198253.3(TERT):c.2355G>A (p.Pro785=) rs545260840 0.00001
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys) rs746621306 0.00001
NM_198253.3(TERT):c.3018G>C (p.Leu1006=) rs941352340 0.00001
NM_198253.3(TERT):c.3157+3A>T rs369807900 0.00001
NM_198253.3(TERT):c.456G>C (p.Leu152=) rs757121533 0.00001
NR_001566.3(TERC):n.193G>A rs753227339 0.00001
NM_001099274.3(TINF2):c.1061+4_1061+7del
NM_001099274.3(TINF2):c.1222-11del rs746206409
NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val) rs780647966
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=) rs780647966
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr) rs374776408
NM_001099274.3(TINF2):c.146T>C (p.Val49Ala) rs1594555802
NM_001099274.3(TINF2):c.280G>C (p.Val94Leu) rs754157164
NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro) rs2040583306
NM_001099274.3(TINF2):c.433G>A (p.Ala145Thr) rs2139001098
NM_001099274.3(TINF2):c.617C>T (p.Thr206Ile) rs2138999303
NM_001099274.3(TINF2):c.823A>C (p.Thr275Pro) rs2138998293
NM_001099274.3(TINF2):c.828G>T (p.Arg276Ser) rs2138998258
NM_001099274.3(TINF2):c.864T>C (p.Phe288=) rs2138998003
NM_001283009.2(RTEL1):c.1481+8C>G rs758734115
NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=) rs745339095
NM_001283009.2(RTEL1):c.1783A>G (p.Lys595Glu) rs914471851
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1968T>C (p.Val656=) rs757289575
NM_001283009.2(RTEL1):c.2142-3del rs755965232
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=) rs1224602711
NM_001283009.2(RTEL1):c.2261G>T (p.Arg754Leu) rs141423196
NM_001283009.2(RTEL1):c.2389C>G (p.Pro797Ala) rs2090707732
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe) rs1029017182
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr) rs2090751615
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg) rs2090752058
NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu) rs200505378
NM_001283009.2(RTEL1):c.2700G>A (p.Met900Ile) rs2145445906
NM_001283009.2(RTEL1):c.2852-12C>T rs745776915
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=) rs398123018
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2979C>A (p.Val993=) rs116365288
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3238T>C (p.Leu1080=) rs2145475291
NM_001283009.2(RTEL1):c.3499+5_3499+6insT rs2145478219
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln) rs1242481082
NM_001283009.2(RTEL1):c.675G>A (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr) rs2071893244
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys) rs2148509194
NM_001363.5(DKC1):c.822T>C (p.Asp274=) rs1002559487
NM_017838.4(NHP2):c.160+11C>T rs201274409
NM_025099.6(CTC1):c.1120G>T (p.Glu374Ter) rs1987674659
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu) rs62624978
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser) rs770505786
NM_025099.6(CTC1):c.225T>C (p.Thr75=) rs761598220
NM_025099.6(CTC1):c.2337T>C (p.Thr779=) rs1567603423
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.2721A>G (p.Leu907=) rs776568637
NM_025099.6(CTC1):c.295G>C (p.Ala99Pro) rs2151531876
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met) rs1209523245
NM_025099.6(CTC1):c.3387+3G>A rs2151498493
NM_025099.6(CTC1):c.3533G>A (p.Arg1178Gln) rs764813118
NM_025099.6(CTC1):c.3648C>G (p.Ser1216=) rs2151496576
NM_025099.6(CTC1):c.420C>T (p.Gly140=) rs1207136461
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.853G>C (p.Glu285Gln) rs2151523962
NM_025099.6(CTC1):c.860G>A (p.Arg287Gln) rs1987718148
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.136G>T (p.Ala46Ser) rs1579599228
NM_198253.3(TERT):c.1546G>A (p.Asp516Asn) rs1156765768
NM_198253.3(TERT):c.2149T>A (p.Tyr717Asn) rs2126640445
NM_198253.3(TERT):c.2590C>T (p.Leu864=) rs777358007
NM_198253.3(TERT):c.2844-12C>T rs199765802
NM_198253.3(TERT):c.702G>A (p.Leu234=) rs754359147
NM_198253.3(TERT):c.777G>A (p.Pro259=) rs746036694

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.