ClinVar Miner

List of variants reported as uncertain significance for ectodermal dysplasia syndrome by Sema4, Sema4

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
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.3251C>T (p.Thr1084Ile) rs142457144 0.00055
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.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_017838.4(NHP2):c.190G>A (p.Val64Met) rs79031130 0.00038
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
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_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00030
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
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_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu) rs149537474 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_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.3407C>G (p.Thr1136Ser) rs150686112 0.00012
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_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val) rs201787600 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.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473 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_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser) rs545606632 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_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_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.259T>A (p.Ser87Thr) rs543685758 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 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_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.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_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_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.874C>T (p.Arg292Cys) rs1013688033 0.00002
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) rs768168259 0.00002
NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) rs749849244 0.00001
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00001
NM_001283009.2(RTEL1):c.2795C>T (p.Ala932Val) rs1239433355 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.533T>C (p.Val178Ala) rs199685200 0.00001
NM_001283009.2(RTEL1):c.539-6C>A rs778544732 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.1528A>G (p.Thr510Ala) rs578120516 0.00001
NM_025099.6(CTC1):c.1646T>C (p.Phe549Ser) rs1019443155 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 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.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.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.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_001283009.2(RTEL1):c.1481+8C>G rs758734115
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.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.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.2979C>A (p.Val993=) rs116365288
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_001363.5(DKC1):c.1352G>C (p.Ser451Thr) rs2071893244
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys) rs2148509194
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.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.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.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.2844-12C>T rs199765802
NM_198253.3(TERT):c.777G>A (p.Pro259=) rs746036694

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