ClinVar Miner

List of variants in gene TP63 studied for cleft lip

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_003722.5(TP63):c.1788G>A (p.Ala596=) rs148577576 0.00180
NM_003722.5(TP63):c.498C>T (p.Pro166=) rs146612442 0.00041
NM_003722.5(TP63):c.1599C>T (p.Ser533=) rs758093495 0.00018
NM_003722.5(TP63):c.1575C>T (p.Leu525=) rs147389337 0.00011
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.882+19A>T rs200703504 0.00008
NM_003722.5(TP63):c.1095G>A (p.Ser365=) rs748609799 0.00006
NM_003722.5(TP63):c.2021G>A (p.Arg674His) rs34713855 0.00006
NM_003722.5(TP63):c.1626G>A (p.Pro542=) rs370637253 0.00005
NM_003722.5(TP63):c.654A>G (p.Pro218=) rs764672477 0.00005
NM_003722.5(TP63):c.714G>A (p.Thr238=) rs773030906 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.366G>A (p.Gln122=) rs201774402 0.00003
NM_003722.5(TP63):c.402T>C (p.Tyr134=) rs201239102 0.00003
NM_003722.5(TP63):c.50C>G (p.Pro17Arg) rs1408730457 0.00003
NM_003722.5(TP63):c.992+8G>A rs192488893 0.00003
NM_003722.5(TP63):c.110G>A (p.Arg37Gln) rs754361670 0.00002
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) rs775037738 0.00001
NM_003722.5(TP63):c.156A>G (p.Pro52=) rs780898702 0.00001
NM_003722.5(TP63):c.1612A>G (p.Thr538Ala) rs565094952 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.62G>A (p.Arg21His) rs766583971 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_003722.5(TP63):c.1646T>A (p.Ile549Asn)
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) rs121908845
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) rs121908846
NM_003722.5(TP63):c.1790T>C (p.Ile597Thr) rs1577213466
NM_003722.5(TP63):c.1827del (p.Glu609fs) rs2108873431
NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del) rs1294809942
NM_003722.5(TP63):c.1833_1843dup (p.His615fs)
NM_003722.5(TP63):c.1900del (p.Arg634fs) rs2108874029
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.1976del (p.Asn659fs) rs2108874645
NM_003722.5(TP63):c.20G>T (p.Arg7Leu) rs568702479
NM_003722.5(TP63):c.858dup (p.Leu287fs) rs2108801923
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840

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