ClinVar Miner

List of variants in gene TP63 reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.*1181T>C rs565556454 0.00153
NM_003722.5(TP63):c.*101C>T rs574438859 0.00077
NM_003722.5(TP63):c.*1959A>T rs527726173 0.00044
NM_003722.5(TP63):c.*803G>A rs544230654 0.00041
NM_003722.5(TP63):c.*966C>T rs539983621 0.00026
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln) rs142981128 0.00011
NM_003722.5(TP63):c.1121C>T (p.Thr374Met) rs199807776 0.00009
NM_003722.5(TP63):c.*2009T>C rs886058236 0.00006
NM_003722.5(TP63):c.2021G>A (p.Arg674His) rs34713855 0.00006
NM_003722.5(TP63):c.*1472A>G rs375551286 0.00005
NM_003722.5(TP63):c.992+9C>T rs369838833 0.00005
NM_003722.5(TP63):c.*1702G>A rs886058232 0.00004
NM_003722.5(TP63):c.*2197C>A rs886058237 0.00004
NM_003722.5(TP63):c.1352C>G (p.Thr451Ser) rs747305746 0.00003
NM_003722.5(TP63):c.1697C>T (p.Thr566Met) rs745687224 0.00003
NM_003722.5(TP63):c.1807G>C (p.Asp603His) rs767906723 0.00003
NM_003722.5(TP63):c.50C>G (p.Pro17Arg) rs1408730457 0.00003
NM_003722.5(TP63):c.*1377C>T rs764599956 0.00002
NM_003722.5(TP63):c.*1748A>G rs1037267655 0.00002
NM_003722.5(TP63):c.*221G>A rs886058224 0.00002
NM_003722.5(TP63):c.*820C>T rs1000155602 0.00002
NM_003722.5(TP63):c.110G>A (p.Arg37Gln) rs754361670 0.00002
NM_003722.5(TP63):c.1761G>A (p.Leu587=) rs573105911 0.00002
NM_003722.5(TP63):c.*232T>C rs569527175 0.00001
NM_003722.5(TP63):c.*382A>G rs886058227 0.00001
NM_003722.5(TP63):c.*802G>A rs1202255721 0.00001
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) rs775037738 0.00001
NM_003722.5(TP63):c.1523C>T (p.Thr508Ile) rs1487186623 0.00001
NM_003722.5(TP63):c.1528A>T (p.Met510Leu) rs769778189 0.00001
NM_003722.5(TP63):c.1612A>G (p.Thr538Ala) rs565094952 0.00001
NM_003722.5(TP63):c.1644C>T (p.Ser548=) rs763019843 0.00001
NM_003722.5(TP63):c.1825G>A (p.Glu609Lys) rs142762485 0.00001
NM_003722.5(TP63):c.2003G>A (p.Arg668His) rs758317410 0.00001
NM_003722.5(TP63):c.290G>A (p.Arg97His) rs752080701 0.00001
NM_003722.5(TP63):c.409G>C (p.Asp137His) rs762935508 0.00001
NM_003722.5(TP63):c.61C>T (p.Arg21Cys) rs1452651956 0.00001
NM_003722.5(TP63):c.62G>A (p.Arg21His) rs766583971 0.00001
NM_003722.5(TP63):c.*1164A>G rs886058230
NM_003722.5(TP63):c.*1169T>C rs775038180
NM_003722.5(TP63):c.*1217T>C rs886058231
NM_003722.5(TP63):c.*1248C>T rs1721420029
NM_003722.5(TP63):c.*1437C>G rs370056499
NM_003722.5(TP63):c.*1846C>T rs886058234
NM_003722.5(TP63):c.*2155G>A rs573673077
NM_003722.5(TP63):c.*2162C>A rs1407968564
NM_003722.5(TP63):c.*2205A>G rs886058238
NM_003722.5(TP63):c.*2273A>G rs886058239
NM_003722.5(TP63):c.*2357C>A rs1219703516
NM_003722.5(TP63):c.*280G>A rs1365557719
NM_003722.5(TP63):c.*295T>A rs886058226
NM_003722.5(TP63):c.*736T>G rs1055700666
NM_003722.5(TP63):c.*759G>A rs1395004909
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) rs121908847
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr) rs1403304957
NM_003722.5(TP63):c.1724A>G (p.Gln575Arg)
NM_003722.5(TP63):c.1802T>C (p.Ile601Thr)
NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del) rs1294809942
NM_003722.5(TP63):c.1834T>G (p.Ser612Ala) rs1721303299
NM_003722.5(TP63):c.1880G>A (p.Ser627Asn) rs1293584292
NM_003722.5(TP63):c.1994T>G (p.Met665Arg) rs886058223
NM_003722.5(TP63):c.2017C>T (p.Gln673Ter)
NM_003722.5(TP63):c.766+3A>G rs886058221
NM_003722.5(TP63):c.799G>A (p.Val267Ile) rs768752805
NM_003722.5(TP63):c.802G>A (p.Glu268Lys) rs2108801803
NM_003722.5(TP63):c.899C>A (p.Thr300Lys) rs886058222

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