ClinVar Miner

List of variants reported as benign for dental enamel hypoplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_005220.3(DLX3):c.*928A>G rs12452477 0.72043
NM_004771.4(MMP20):c.53A>C (p.Lys18Thr) rs2245803 0.64460
NM_004771.4(MMP20):c.824T>C (p.Val275Ala) rs1784423 0.39994
NM_004771.4(MMP20):c.842C>A (p.Thr281Asn) rs1784424 0.39948
NM_005220.3(DLX3):c.-64C>T rs2278163 0.26785
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_005220.3(DLX3):c.402G>A (p.Thr134=) rs2303466 0.18221
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_005220.3(DLX3):c.*1326T>A rs3803877 0.09111
NM_005220.3(DLX3):c.-134C>A rs10459948 0.08249
NM_005220.3(DLX3):c.138C>T (p.Pro46=) rs33937843 0.08182
NM_005220.3(DLX3):c.-189G>T rs34783534 0.06775
NM_005220.3(DLX3):c.*1300C>G rs3803878 0.06607
NM_005220.3(DLX3):c.*1016G>C rs74607282 0.06204
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_004771.4(MMP20):c.810C>T (p.Tyr270=) rs11225343 0.02179
NM_005220.3(DLX3):c.*494A>G rs78617063 0.02070
NM_005220.3(DLX3):c.*679C>T rs77798106 0.01827
NM_031889.3(ENAM):c.1926C>T (p.Thr642=) rs6813313 0.01562
NM_182758.4(WDR72):c.1195A>C (p.Lys399Gln) rs35258188 0.01531
NM_182758.4(WDR72):c.*2081C>T rs74015391 0.01510
NM_031889.3(ENAM):c.2171C>T (p.Pro724Leu) rs3796703 0.01388
NM_005220.3(DLX3):c.582G>A (p.Pro194=) rs11868203 0.00824
NM_004771.4(MMP20):c.505A>C (p.Ile169Leu) rs17099008 0.00801
NM_005220.3(DLX3):c.*986C>T rs113406148 0.00384
NM_005220.3(DLX3):c.*527G>A rs188986974 0.00290
NM_005220.3(DLX3):c.*1335C>T rs529185809 0.00228
NM_005220.3(DLX3):c.*1410G>A rs564135525 0.00206
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys) rs142563930 0.00179
NM_005220.3(DLX3):c.*1296G>A rs117813438 0.00066
NM_005220.3(DLX3):c.*707C>T rs185357085 0.00056
NM_182758.4(WDR72):c.*3225T>G rs137867992 0.00044
NM_005220.3(DLX3):c.*868C>T rs540375923 0.00043
NM_005220.3(DLX3):c.*60G>A rs3744540 0.00029
NM_005220.3(DLX3):c.736G>C (p.Asp246His) rs3744539 0.00023
NM_005220.3(DLX3):c.*723T>G rs182361413 0.00016
NM_005220.3(DLX3):c.*259C>A rs190141435 0.00009
NM_004771.4(MMP20):c.*227A>C rs12278482
NM_005220.3(DLX3):c.*987C>T rs575910460
NM_031889.3(ENAM):c.2241C>T (p.Tyr747=) rs36064169
NM_182758.4(WDR72):c.*3423A>C rs74015386

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