ClinVar Miner

List of variants reported as uncertain significance for Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 by Illumina Laboratory Services, Illumina

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Total variants: 46
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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.*2009T>C rs886058236 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.*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.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.-65C>T rs886058220 0.00001
NM_003722.5(TP63):c.1523C>T (p.Thr508Ile) rs1487186623 0.00001
NM_003722.5(TP63):c.1644C>T (p.Ser548=) rs763019843 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.*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.-38T>C rs1729451583
NM_003722.5(TP63):c.-3G>C rs770510830
NM_003722.5(TP63):c.-87C>T rs747090025
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.766+3A>G rs886058221
NM_003722.5(TP63):c.899C>A (p.Thr300Lys) rs886058222

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