ClinVar Miner

List of variants in gene TP63 studied for EEC syndrome and related syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP
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.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 rs1577182394
NM_003722.5(TP63):c.1350-75_1492del rs1577195893
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.1528A>T (p.Met510Leu) rs769778189
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.1685T>C (p.Leu562Pro) rs774221257
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.1846del (p.Leu616fs) rs113993964
NM_003722.5(TP63):c.1877T>G (p.Val626Gly)
NM_003722.5(TP63):c.1880G>A (p.Ser627Asn)
NM_003722.5(TP63):c.1963del (p.Arg655fs) rs797044843
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.325-18456A>C rs113993963
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.518G>A (p.Gly173Asp) rs113993965
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.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.766+3A>G rs886058221
NM_003722.5(TP63):c.766+5G>A rs374425727
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
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.953G>A (p.Arg318His) rs121908840
NM_003722.5(TP63):c.992+4A>C rs534974406
NM_003722.5(TP63):c.992+9C>T rs369838833
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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