List of variants reported as benign for dental enamel hypoplasia

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 93

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HGVS	dbSNP	gnomAD frequency
NM_182758.4(WDR72):c.298A>G (p.Met100Val)	rs690346	0.95957
NM_182758.4(WDR72):c.955-43C>A	rs690235	0.95246
NM_000228.3(LAMB3):c.823-15C>T	rs4844863	0.84219
NM_198488.5(FAM83H):c.1827C>T (p.Tyr609=)	rs13254035	0.81988
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)	rs2179402	0.74805
NM_182758.4(WDR72):c.339+9A>G	rs690337	0.73805
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser)	rs2907373	0.72701
NM_005220.3(DLX3):c.*928A>G	rs12452477	0.72043
NM_004771.4(MMP20):c.53A>C (p.Lys18Thr)	rs2245803	0.64460
NM_198488.5(FAM83H):c.2884C>T (p.Leu962=)	rs11136321	0.60606
NM_182758.4(WDR72):c.1407T>C (p.Tyr469=)	rs6416452	0.59102
NM_000228.3(LAMB3):c.184-70A>G	rs2076357	0.57810
NM_000228.3(LAMB3):c.291A>C (p.Ser97=)	rs2076356	0.56410
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)	rs1049607	0.44327
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_182758.4(WDR72):c.917C>T (p.Pro306Leu)	rs551225	0.37615
NM_000228.3(LAMB3):c.384C>T (p.Pro128=)	rs1130667	0.30741
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys)	rs2302234	0.30437
NM_000228.3(LAMB3):c.1976+169T>C	rs4844860	0.29396
NM_000228.3(LAMB3):c.298+50T>A	rs2076355	0.28812
NM_000228.3(LAMB3):c.2556+60C>T	rs3737913	0.27290
NM_000228.3(LAMB3):c.*102C>T	rs2566	0.27226
NM_005220.3(DLX3):c.-64C>T	rs2278163	0.26785
NM_000228.3(LAMB3):c.138C>T (p.Thr46=)	rs2228339	0.25110
NM_031889.3(ENAM):c.*687G>C	rs7665492	0.23393
NM_031889.3(ENAM):c.*264C>G	rs7664896	0.21636
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe)	rs17730281	0.21505
NM_031889.3(ENAM):c.-123G>A	rs1993579	0.21005
NM_005220.3(DLX3):c.402G>A (p.Thr134=)	rs2303466	0.18221
NM_005220.3(DLX3):c.516+23C>T	rs2303467	0.18199
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_000228.3(LAMB3):c.1579G>A (p.Val527Met)	rs2076349	0.12644
NM_000228.3(LAMB3):c.1486-18G>A	rs2076350	0.12625
NM_000228.3(LAMB3):c.1289-52G>A	rs2072938	0.12083
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=)	rs3179860	0.11219
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)	rs12748250	0.11215
NM_198488.5(FAM83H):c.1493C>T (p.Pro498Leu)	rs1137806	0.11038
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_000228.3(LAMB3):c.1764T>C (p.Tyr588=)	rs2229465	0.02743
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp)	rs2076222	0.02691
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)	rs2072937	0.02665
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)	rs2229466	0.02614
NM_000228.3(LAMB3):c.564+10G>A	rs12410975	0.02306
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_000888.5(ITGB6):c.1312G>A (p.Val438Met)	rs61737764	0.00345
NM_005220.3(DLX3):c.*527G>A	rs188986974	0.00290
NM_017565.4(FAM20A):c.444C>T (p.Ser148=)	rs139743735	0.00235
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_004577.4(PSPH):c.398A>G (p.Asn133Ser)	rs148469975	0.00004
NM_000228.3(LAMB3):c.1289-186G>A	rs61822212
NM_000228.3(LAMB3):c.822+33G>C	rs2072940
NM_000888.5(ITGB6):c.2269-5del	rs5835793
NM_004771.4(MMP20):c.*227A>C	rs12278482
NM_005220.3(DLX3):c.*987C>T	rs575910460
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
NM_182758.4(WDR72):c.*3423A>C	rs74015386
NM_182758.4(WDR72):c.261-8del	rs34828731
NM_182758.4(WDR72):c.2872+42del	rs34829468

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