ClinVar Miner

List of variants studied for EEC syndrome and related syndrome

Included ClinVar conditions (8):
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ClinVar version:
Total variants: 137
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HGVS dbSNP
NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) rs28931614
NM_001163213.1(FGFR3):c.1337C>T (p.Ser446Phe) rs761325047
NM_001163213.1(FGFR3):c.1543G>A (p.Asp515Asn) rs121913112
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001163213.1(FGFR3):c.1888G>A (p.Asp630Asn) rs1453271838
NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr) rs121913105
NM_001163213.1(FGFR3):c.1999G>T (p.Ala667Ser) rs764892330
NM_001163213.1(FGFR3):c.200G>A (p.Gly67Asp) rs369232922
NM_001163213.1(FGFR3):c.2159A>G (p.Asn720Ser) rs139773438
NM_001163213.1(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg) rs121908837
NM_003722.5(TP63):c.1037C>G (p.Ala346Gly) rs797044484
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) rs121908844
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) rs121908847
NM_003722.5(TP63):c.1350-6315C>A
NM_003722.5(TP63):c.1350-75_1492del
NM_003722.5(TP63):c.1528A>T (p.Met510Leu)
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)
NM_003722.5(TP63):c.1846del (p.Leu616fs) rs113993964
NM_003722.5(TP63):c.1963del (p.Arg655fs) rs797044843
NM_003722.5(TP63):c.325-18456A>C rs113993963
NM_003722.5(TP63):c.325-18543_325-18542insAGAG
NM_003722.5(TP63):c.518G>A (p.Gly173Asp) rs113993965
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) rs121908836
NM_003722.5(TP63):c.739C>T (p.His247Tyr) rs1553856553
NM_003722.5(TP63):c.740A>G (p.His247Arg) rs864621968
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_004465.1(FGF10):c.*5A>T rs111763965
NM_004465.1(FGF10):c.144G>A (p.Glu48=) rs886060655
NM_004465.1(FGF10):c.186C>A (p.Ser62Arg) rs886060654
NM_004465.1(FGF10):c.1A>G (p.Met1Val) rs1554040396
NM_004465.1(FGF10):c.232delC (p.Arg78Alafs) rs1554040364
NM_004465.1(FGF10):c.240A>C (p.Arg80Ser) rs104893888
NM_004465.1(FGF10):c.256delA (p.Thr86Profs) rs1554040361
NM_004465.1(FGF10):c.261G>A (p.Lys87=) rs545941601
NM_004465.1(FGF10):c.317G>T (p.Cys106Phe) rs104893885
NM_004465.1(FGF10):c.356delG (p.Gly119Glufs) rs1554035763
NM_004465.1(FGF10):c.401T>A (p.Met134Lys) rs1554035757
NM_004465.1(FGF10):c.409A>T (p.Lys137Ter) rs104893887
NM_004465.1(FGF10):c.426C>T (p.Gly142=) rs149851674
NM_004465.1(FGF10):c.430-15G>C rs2290070
NM_004465.1(FGF10):c.467T>G (p.Ile156Arg) rs104893886
NM_004465.1(FGF10):c.541A>C (p.Asn181His) rs1332768200
NM_004465.1(FGF10):c.550G>A (p.Gly184Arg) rs1554035469
NM_004465.1(FGF10):c.591C>T (p.Thr197=) rs17234639
NM_004465.1(FGF10):c.620A>C (p.His207Pro) rs147715509
NM_004465.1(FGF10):c.624A>G (p.Ser208=) rs886060653
NM_022970.3(FGFR2):c.*1070T>C rs886046761
NM_022970.3(FGFR2):c.*111G>A rs574474794
NM_022970.3(FGFR2):c.*1126T>C rs370106008
NM_022970.3(FGFR2):c.*1287A>C rs886046760
NM_022970.3(FGFR2):c.*1301C>T rs71640261
NM_022970.3(FGFR2):c.*1319A>G rs3135830
NM_022970.3(FGFR2):c.*1369C>T rs886046759
NM_022970.3(FGFR2):c.*1402T>C rs886046758
NM_022970.3(FGFR2):c.*1489C>T rs886046757
NM_022970.3(FGFR2):c.*1498_*1502del rs566259479
NM_022970.3(FGFR2):c.*184C>T rs4647917
NM_022970.3(FGFR2):c.*197del rs748777325
NM_022970.3(FGFR2):c.*259C>T rs1047057
NM_022970.3(FGFR2):c.*324A>G rs150519853
NM_022970.3(FGFR2):c.*403A>G rs3135826
NM_022970.3(FGFR2):c.*469G>A rs41294351
NM_022970.3(FGFR2):c.*497T>C rs3135827
NM_022970.3(FGFR2):c.*641_*644del rs548465887
NM_022970.3(FGFR2):c.*674G>T rs566155088
NM_022970.3(FGFR2):c.*736dup rs886046762
NM_022970.3(FGFR2):c.*921G>A rs185617859
NM_022970.3(FGFR2):c.-128G>A rs547739869
NM_022970.3(FGFR2):c.-129C>T rs886046765
NM_022970.3(FGFR2):c.-135C>T rs554557891
NM_022970.3(FGFR2):c.-157A>G rs41258305
NM_022970.3(FGFR2):c.-165G>A rs886046766
NM_022970.3(FGFR2):c.-236G>A rs1047111
NM_022970.3(FGFR2):c.-236G>C rs1047111
NM_022970.3(FGFR2):c.-298_-297dup rs41301549
NM_022970.3(FGFR2):c.-318G>C rs41301547
NM_022970.3(FGFR2):c.-358C>T rs41301545
NM_022970.3(FGFR2):c.-371C>T rs527570655
NM_022970.3(FGFR2):c.-458C>A rs41301043
NM_022970.3(FGFR2):c.-46G>A rs201606812
NM_022970.3(FGFR2):c.-535G>C rs886046767
NM_022970.3(FGFR2):c.-622G>A rs886046768
NM_022970.3(FGFR2):c.-74G>A rs4647922
NM_022970.3(FGFR2):c.1087+1268G>A rs199757302
NM_022970.3(FGFR2):c.1087+1292G>A rs1057519044
NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1087+1311G>A rs121918491
NM_022970.3(FGFR2):c.1088-13A>T rs41295573
NM_022970.3(FGFR2):c.109+10T>G rs3135722
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794
NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys) rs121913478
NM_022970.3(FGFR2):c.1153G>A (p.Gly385Arg) rs1554927408
NM_022970.3(FGFR2):c.1182A>T (p.Val394=) rs886046763
NM_022970.3(FGFR2):c.1242G>A (p.Pro414=) rs147674677
NM_022970.3(FGFR2):c.1480G>T (p.Gly494Trp) rs1554917471
NM_022970.3(FGFR2):c.1542C>A (p.Thr514=) rs74160617
NM_022970.3(FGFR2):c.1551G>A (p.Val517=) rs200522893
NM_022970.3(FGFR2):c.1565-11A>G rs41293744
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.1676-12C>T rs41293763
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.1777C>T (p.Arg593Cys) rs141929882
NM_022970.3(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_022970.3(FGFR2):c.1885G>A (p.Ala629Thr) rs121918509
NM_022970.3(FGFR2):c.1944C>T (p.Leu648=) rs35337478
NM_022970.3(FGFR2):c.1945G>A (p.Ala649Thr) rs121918508
NM_022970.3(FGFR2):c.1950_1952del (p.Arg650_Asp651delinsSer) rs879253720
NM_022970.3(FGFR2):c.2004C>G (p.Val668=) rs61731218
NM_022970.3(FGFR2):c.2024C>T (p.Ala675Val) rs1554907337
NM_022970.3(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.2418C>T (p.Tyr806=) rs558460047
NM_022970.3(FGFR2):c.2419G>A (p.Glu807Lys) rs764959117
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_022970.3(FGFR2):c.625-10A>G rs201512833
NM_022970.3(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_022970.3(FGFR2):c.879C>T (p.His293=) rs55745510
NM_022970.3(FGFR2):c.939+11T>C rs145303463
TP63, 1-BP INS, 1572A
TP63, 2-BP DEL, 1576TT
TP63, 2-BP DEL, 1743AA
TP63, ARG227PRO
TP63, PRO127LEU
TP63, VAL114MET

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