ClinVar Miner

List of variants in gene TTC12 studied for ciliary dyskinesia, primary, 45

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017868.4(TTC12):c.504+8G>A rs2303380 0.60533
NM_017868.4(TTC12):c.217A>C (p.Met73Leu) rs723077 0.39224
NM_017868.4(TTC12):c.827-16T>G rs10891537 0.34454
NM_017868.4(TTC12):c.1700T>G (p.Met567Arg) rs372955658 0.00005
NM_017868.4(TTC12):c.1678C>T (p.Arg560Ter) rs201244916 0.00004
NM_017868.4(TTC12):c.1614+3A>T rs782603932
NM_017868.4(TTC12):c.1801A>G (p.Ile601Val)
NM_017868.4(TTC12):c.1816+30T>C rs719802
NM_017868.4(TTC12):c.607del (p.Glu202_Ile203insTer) rs781864891

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