ClinVar Miner

List of variants studied for EEC syndrome and related syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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HGVS dbSNP
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*111G>A rs574474794
NM_000141.5(FGFR2):c.*1126T>C rs370106008
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*1301C>T rs71640261
NM_000141.5(FGFR2):c.*1319A>G rs3135830
NM_000141.5(FGFR2):c.*1369C>T rs886046759
NM_000141.5(FGFR2):c.*1402T>C rs886046758
NM_000141.5(FGFR2):c.*1489C>T rs886046757
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*184C>T rs4647917
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*259C>T rs1047057
NM_000141.5(FGFR2):c.*324A>G rs150519853
NM_000141.5(FGFR2):c.*403A>G rs3135826
NM_000141.5(FGFR2):c.*469G>A rs41294351
NM_000141.5(FGFR2):c.*497T>C rs3135827
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.*674G>T rs566155088
NM_000141.5(FGFR2):c.*736dup rs886046762
NM_000141.5(FGFR2):c.*921G>A rs185617859
NM_000141.5(FGFR2):c.-128G>A rs547739869
NM_000141.5(FGFR2):c.-129C>T rs886046765
NM_000141.5(FGFR2):c.-135C>T rs554557891
NM_000141.5(FGFR2):c.-157A>G rs41258305
NM_000141.5(FGFR2):c.-165G>A rs886046766
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.-318G>C rs41301547
NM_000141.5(FGFR2):c.-358C>T rs41301545
NM_000141.5(FGFR2):c.-371C>T rs527570655
NM_000141.5(FGFR2):c.-458C>A rs41301043
NM_000141.5(FGFR2):c.-46G>A rs201606812
NM_000141.5(FGFR2):c.-535G>C rs886046767
NM_000141.5(FGFR2):c.-622G>A rs886046768
NM_000141.5(FGFR2):c.-74G>A rs4647922
NM_000141.5(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510
NM_003722.5(TP63):c.*101C>T rs574438859
NM_003722.5(TP63):c.*1164A>G rs886058230
NM_003722.5(TP63):c.*1169T>C
NM_003722.5(TP63):c.*1181T>C rs565556454
NM_003722.5(TP63):c.*1217T>C rs886058231
NM_003722.5(TP63):c.*1248C>T
NM_003722.5(TP63):c.*1343T>C
NM_003722.5(TP63):c.*1377C>T
NM_003722.5(TP63):c.*1386T>C rs35785527
NM_003722.5(TP63):c.*1437C>G
NM_003722.5(TP63):c.*1464G>T rs571277874
NM_003722.5(TP63):c.*1472A>G rs375551286
NM_003722.5(TP63):c.*1620T>C rs34328757
NM_003722.5(TP63):c.*1702G>A rs886058232
NM_003722.5(TP63):c.*1748A>G
NM_003722.5(TP63):c.*1846C>T rs886058234
NM_003722.5(TP63):c.*1939T>G rs567626735
NM_003722.5(TP63):c.*1959A>T rs527726173
NM_003722.5(TP63):c.*2002T>G rs35969817
NM_003722.5(TP63):c.*2009T>C rs886058236
NM_003722.5(TP63):c.*2016A>G
NM_003722.5(TP63):c.*2123C>T rs36064124
NM_003722.5(TP63):c.*2139G>A rs35356690
NM_003722.5(TP63):c.*2155G>A rs573673077
NM_003722.5(TP63):c.*2162C>A
NM_003722.5(TP63):c.*2197C>A rs886058237
NM_003722.5(TP63):c.*2205A>G rs886058238
NM_003722.5(TP63):c.*2216G>A rs35861864
NM_003722.5(TP63):c.*221G>A rs886058224
NM_003722.5(TP63):c.*2273A>G rs886058239
NM_003722.5(TP63):c.*2318G>A rs199834330
NM_003722.5(TP63):c.*232T>C rs569527175
NM_003722.5(TP63):c.*2345C>T rs35592567
NM_003722.5(TP63):c.*2357C>A
NM_003722.5(TP63):c.*2426C>T rs568346565
NM_003722.5(TP63):c.*2477T>G rs186295449
NM_003722.5(TP63):c.*2625A>T rs35694511
NM_003722.5(TP63):c.*280G>A
NM_003722.5(TP63):c.*295T>A rs886058226
NM_003722.5(TP63):c.*379T>A rs192879052
NM_003722.5(TP63):c.*382A>G rs886058227
NM_003722.5(TP63):c.*435C>T rs78233713
NM_003722.5(TP63):c.*45C>T rs34057105
NM_003722.5(TP63):c.*471A>T
NM_003722.5(TP63):c.*541G>A rs73199799
NM_003722.5(TP63):c.*627T>C rs184452906
NM_003722.5(TP63):c.*638C>G rs6444406
NM_003722.5(TP63):c.*736T>G
NM_003722.5(TP63):c.*759G>A
NM_003722.5(TP63):c.*802G>A
NM_003722.5(TP63):c.*803G>A rs544230654
NM_003722.5(TP63):c.*820C>T
NM_003722.5(TP63):c.*854A>G rs187751631
NM_003722.5(TP63):c.*966C>T rs539983621
NM_003722.5(TP63):c.-38T>C
NM_003722.5(TP63):c.-3G>C
NM_003722.5(TP63):c.-58A>T rs28673064
NM_003722.5(TP63):c.-65C>T rs886058220
NM_003722.5(TP63):c.-87C>T
NM_003722.5(TP63):c.1374A>G (p.Ser458=) rs141794685
NM_003722.5(TP63):c.1404A>G (p.Lys468=)
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr)
NM_003722.5(TP63):c.1523C>T (p.Thr508Ile)
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109
NM_003722.5(TP63):c.1587C>T (p.Leu529=) rs141847552
NM_003722.5(TP63):c.1644C>T (p.Ser548=) rs763019843
NM_003722.5(TP63):c.1652+14A>C rs150685395
NM_003722.5(TP63):c.1707G>A (p.Gly569=) rs202009057
NM_003722.5(TP63):c.1761G>A (p.Leu587=)
NM_003722.5(TP63):c.1834T>G (p.Ser612Ala)
NM_003722.5(TP63):c.1877T>G (p.Val626Gly)
NM_003722.5(TP63):c.1880G>A (p.Ser627Asn)
NM_003722.5(TP63):c.1994T>G (p.Met665Arg) rs886058223
NM_003722.5(TP63):c.210G>C (p.Gln70His)
NM_003722.5(TP63):c.303G>A (p.Ser101=) rs186864205
NM_003722.5(TP63):c.387G>A (p.Ser129=)
NM_003722.5(TP63):c.399C>T (p.Pro133=) rs145730343
NM_003722.5(TP63):c.409G>C (p.Asp137His) rs762935508
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696
NM_003722.5(TP63):c.61C>T (p.Arg21Cys)
NM_003722.5(TP63):c.63-1G>C rs200607940
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782
NM_003722.5(TP63):c.688G>C (p.Val230Leu)
NM_003722.5(TP63):c.699A>G (p.Lys233=) rs199727371
NM_003722.5(TP63):c.766+3A>G rs886058221
NM_003722.5(TP63):c.766+5G>A rs374425727
NM_003722.5(TP63):c.84T>G (p.His28Gln) rs370716448
NM_003722.5(TP63):c.859C>T (p.Leu287=) rs33979049
NM_003722.5(TP63):c.899C>A (p.Thr300Lys) rs886058222
NM_003722.5(TP63):c.900G>A (p.Thr300=) rs372807713
NM_003722.5(TP63):c.992+4A>C rs534974406
NM_003722.5(TP63):c.992+9C>T rs369838833
NM_004465.1(FGF10):c.*5A>T rs111763965
NM_004465.2(FGF10):c.144G>A (p.Glu48=) rs886060655
NM_004465.2(FGF10):c.186C>A (p.Ser62Arg) rs886060654
NM_004465.2(FGF10):c.261G>A (p.Lys87=) rs545941601
NM_004465.2(FGF10):c.426C>T (p.Gly142=) rs149851674
NM_004465.2(FGF10):c.430-15G>C rs2290070
NM_004465.2(FGF10):c.591C>T (p.Thr197=) rs17234639
NM_004465.2(FGF10):c.620A>C (p.His207Pro) rs147715509
NM_004465.2(FGF10):c.624A>G (p.Ser208=) rs886060653
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.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.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_022970.3(FGFR2):c.625-10A>G rs201512833
NM_022970.3(FGFR2):c.939+11T>C rs145303463

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