ClinVar Miner

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

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ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.-58A>T rs28673064 0.45321
NM_003722.5(TP63):c.*2345C>T rs35592567 0.20615
NM_003722.5(TP63):c.*541G>A rs73199799 0.09298
NM_003722.5(TP63):c.*45C>T rs34057105 0.05395
NM_003722.5(TP63):c.*2216G>A rs35861864 0.05107
NM_003722.5(TP63):c.*435C>T rs78233713 0.04622
NM_003722.5(TP63):c.*638C>G rs6444406 0.02897
NM_003722.5(TP63):c.859C>T (p.Leu287=) rs33979049 0.01380
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01158
NM_003722.5(TP63):c.*1386T>C rs35785527 0.00979
NM_003722.5(TP63):c.*1620T>C rs34328757 0.00869
NM_003722.5(TP63):c.*1343T>C rs35659283 0.00640
NM_003722.5(TP63):c.*2139G>A rs35356690 0.00627
NM_003722.5(TP63):c.*2016A>G rs115660354 0.00499
NM_003722.5(TP63):c.*2002T>G rs35969817 0.00439
NM_003722.5(TP63):c.*854A>G rs187751631 0.00427
NM_003722.5(TP63):c.*1939T>G rs567626735 0.00308
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_003722.5(TP63):c.399C>T (p.Pro133=) rs145730343 0.00196
NM_003722.5(TP63):c.*2477T>G rs186295449 0.00187
NM_003722.5(TP63):c.*2123C>T rs36064124 0.00159
NM_003722.5(TP63):c.1587C>T (p.Leu529=) rs141847552 0.00082
NM_003722.5(TP63):c.*627T>C rs184452906 0.00043
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782 0.00034
NM_003722.5(TP63):c.*2625A>T rs35694511 0.00026
NM_003722.5(TP63):c.766+5G>A rs374425727 0.00022
NM_003722.5(TP63):c.*2426C>T rs568346565 0.00021
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696 0.00021
NM_003722.5(TP63):c.1877T>G (p.Val626Gly) rs372318389 0.00010
NM_003722.5(TP63):c.*2318G>A rs199834330 0.00009
NM_003722.5(TP63):c.*379T>A rs192879052 0.00006
NM_003722.5(TP63):c.387G>A (p.Ser129=) rs151335217 0.00006
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr) rs138832017 0.00004
NM_003722.5(TP63):c.*1464G>T rs571277874 0.00003
NM_003722.5(TP63):c.900G>A (p.Thr300=) rs372807713 0.00003
NM_003722.5(TP63):c.1404A>G (p.Lys468=) rs753627633 0.00001
NM_003722.5(TP63):c.210G>C (p.Gln70His) rs201631366 0.00001
NM_003722.5(TP63):c.303G>A (p.Ser101=) rs186864205 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_003722.5(TP63):c.*471A>T rs144018872

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