ClinVar Miner

List of variants reported as likely benign for Orofacial cleft 8

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01158
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.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.*2625A>T rs35694511 0.00026
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.1707G>A (p.Gly569=) rs202009057 0.00006
NM_003722.5(TP63):c.*1464G>T rs571277874 0.00003
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_003722.5(TP63):c.*471A>T rs144018872

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