ClinVar Miner

List of variants reported as pathogenic for dental enamel hypoplasia by OMIM

Included ClinVar conditions (28):
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Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter) rs104894704 0.00068
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531 0.00011
NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr) rs140015315 0.00010
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) rs144411158 0.00010
NM_004771.4(MMP20):c.102G>A (p.Trp34Ter) rs587777516 0.00006
NM_033068.3(ACP4):c.226C>T (p.Arg76Cys) rs1057519277 0.00004
NM_152222.2(RELT):c.1169_1170del (p.Pro390fs) rs772929908 0.00004
NM_178497.3(C4orf26):c.318G>A rs146645381 0.00004
NM_017565.4(FAM20A):c.813-2A>G rs587776912 0.00003
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) rs606231462 0.00003
NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter) rs730880297 0.00002
NM_033068.3(ACP4):c.382G>C (p.Ala128Pro) rs767907487 0.00002
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) rs387907215 0.00001
NM_033068.3(ACP4):c.397G>A (p.Glu133Lys) rs779823931 0.00001
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu) rs763573828 0.00001
NM_153646.4(SLC24A4):c.1015C>T (p.Arg339Ter) rs587777535 0.00001
NM_178497.5(ODAPH):c.229C>T (p.Arg77Ter) rs866941536 0.00001
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs) rs786201004
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter) rs869320671
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) rs1553275034
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_000888.5(ITGB6):c.825T>A (p.His275Gln) rs730882118
NM_001142.2(AMELX):c.110C>T (p.Thr37Ile) rs104894733
NM_001142.2(AMELX):c.113del (p.Pro38fs) rs387906487
NM_001142.2(AMELX):c.11G>C (p.Trp4Ser) rs104894738
NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr) rs387906488
NM_001142.2(AMELX):c.166C>A (p.Pro56Thr) rs104894736
NM_001142.2(AMELX):c.2T>C (p.Met1Thr) rs104894737
NM_001142.2(AMELX):c.378del (p.Tyr127fs) rs387906491
NM_001142.2(AMELX):c.431del (p.Pro144fs) rs387906489
NM_001142.2(AMELX):c.499del (p.Leu167fs) rs387906490
NM_001142.2(AMELX):c.529G>T (p.Glu177Ter) rs104894734
NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro) rs1057517672
NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del) rs1555409827
NM_001177676.2(GPR68):c.667_668del (p.Lys223fs) rs1057517671
NM_001258248.2(SP6):c.817_818delinsAA (p.Ala273Lys)
NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met) rs2143647637
NM_001287242.1(ARHGAP6):c.49-45951_49-41228del
NM_004771.4(MMP20):c.611A>G (p.His204Arg) rs786204826
NM_004771.4(MMP20):c.678T>A (p.His226Gln) rs587777515
NM_004917.5(KLK4):c.245del (p.Gly82fs) rs786204825
NM_005220.3(DLX3):c.561_562del (p.Tyr188fs) rs387906406
NM_016519.6(AMBN):c.294+140_531+479del
NM_016519.6(AMBN):c.532-1G>C rs146238585
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) rs587776913
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) rs139620139
NM_017565.4(FAM20A):c.34_35del (p.Leu12fs) rs587776911
NM_017565.4(FAM20A):c.590-2A>G rs587776914
NM_017565.4(FAM20A):c.612del (p.Leu205fs) rs587777531
NM_017565.4(FAM20A):c.720-2A>G rs587777530
NM_031889.3(ENAM):c.157A>T (p.Lys53Ter) rs121908109
NM_031889.3(ENAM):c.534+1G>A rs587776587
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) rs1060499539
NM_152222.2(RELT):c.121-2A>G rs1565222166
NM_152222.2(RELT):c.1265G>C (p.Arg422Pro) rs762816338
NM_153646.4(SLC24A4):c.1495A>T (p.Ser499Cys) rs587777536
NM_153646.4(SLC24A4):c.437C>T (p.Ala146Val) rs587777537
NM_178497.5(ODAPH):c.129C>A (p.Cys43Ter) rs1560562738
NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs) rs1560558455
NM_178497.5(ODAPH):c.68-2A>T rs1560562630
NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter) rs267607178
NM_182758.4(WDR72):c.2857del (p.Ser953fs) rs606231351
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter) rs143816093
NM_198488.5(FAM83H):c.1192C>T (p.Gln398Ter) rs137854436
NM_198488.5(FAM83H):c.1243G>T (p.Glu415Ter) rs137854437
NM_198488.5(FAM83H):c.1366C>T (p.Gln456Ter) rs387907056
NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter) rs137854444
NM_198488.5(FAM83H):c.1380G>A (p.Trp460Ter) rs137854439
NM_198488.5(FAM83H):c.1408C>T (p.Gln470Ter) rs137854441
NM_198488.5(FAM83H):c.1872_1873del (p.Leu625fs) rs796065022
NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter) rs137854440
NM_198488.5(FAM83H):c.2080G>T (p.Glu694Ter) rs137854443
NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter) rs137854442
NM_198488.5(FAM83H):c.891T>A (p.Tyr297Ter) rs137854438
NM_198488.5(FAM83H):c.923_924del (p.Leu308fs) rs796065023
NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter) rs137854435
NM_212557.4(AMTN):c.54+1348_330+98delinsCTCA

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