ClinVar Miner

List of variants reported as benign for Amelogenesis imperfecta

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_031889.3(ENAM):c.*687G>C rs7665492 0.23393
NM_031889.3(ENAM):c.*264C>G rs7664896 0.21636
NM_031889.3(ENAM):c.-123G>A rs1993579 0.21005
NM_031889.3(ENAM):c.1943T>C (p.Ile648Thr) rs7671281 0.17081
NM_031889.3(ENAM):c.*584A>T rs7695611 0.13488
NM_031889.3(ENAM):c.*342T>C rs7679569 0.13105
NM_031889.3(ENAM):c.*1512G>A rs28703660 0.13103
NM_031889.3(ENAM):c.2288G>A (p.Arg763Gln) rs3796704 0.13050
NM_031889.3(ENAM):c.*1829G>A rs76219814 0.09902
NM_031889.3(ENAM):c.1726T>C (p.Phe576Leu) rs2609428 0.04187
NM_031889.3(ENAM):c.*1799T>C rs1055660 0.03953
NM_031889.3(ENAM):c.*1635G>C rs73824820 0.03199
NM_031889.3(ENAM):c.1926C>T (p.Thr642=) rs6813313 0.01562
NM_031889.3(ENAM):c.2171C>T (p.Pro724Leu) rs3796703 0.01388
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser) rs148469975 0.00004
NM_016139.4(CHCHD2):c.418G>A (p.Val140Met) rs1562887957
NM_017637.6(BNC2):c.2860G>A (p.Ala954Thr) rs763487720
NM_031889.3(ENAM):c.2241C>T (p.Tyr747=) rs36064169

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