ClinVar Miner

List of variants reported as pathogenic for dental enamel hypoplasia

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_152222.2(RELT):c.1264C>T (p.Arg422Trp) rs139368769 0.00108
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter) rs104894704 0.00068
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) rs146148316 0.00011
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531 0.00011
NM_000494.4(COL17A1):c.3277+1G>A rs199527325 0.00010
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.103A>C (p.Arg35=) rs61751462 0.00009
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392 0.00006
NM_004771.4(MMP20):c.102G>A (p.Trp34Ter) rs587777516 0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
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_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_017565.4(FAM20A):c.813-2A>G rs587776912 0.00003
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773 0.00003
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) rs606231462 0.00003
NM_000228.3(LAMB3):c.1132+5G>A rs770302956 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000228.3(LAMB3):c.977del (p.His326fs) rs753711190 0.00002
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_000228.3(LAMB3):c.285G>A (p.Trp95Ter) rs1558163550 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 0.00001
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter) rs1564685400 0.00001
NM_004917.5(KLK4):c.632del (p.Leu211fs) rs556734208 0.00001
NM_004917.5(KLK4):c.637T>C (p.Cys213Arg) rs1266288524 0.00001
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_182758.4(WDR72):c.2686C>T (p.Arg896Ter) rs557128345 0.00001
NC_000017.11:g.68534268_68541798del
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.3(LAMB3):c.1133-22G>A rs767847211
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.2116del (p.Lys705_Ile706insTer)
NM_000228.3(LAMB3):c.225_226del (p.His75fs) rs886045870
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) rs1064793896
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.3190_3191delinsTA (p.Ala1064Ter)
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
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_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)
NM_000494.4(COL17A1):c.1700G>A (p.Gly567Glu)
NM_000494.4(COL17A1):c.2912del (p.Pro971fs)
NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
NM_000494.4(COL17A1):c.3456del (p.Pro1154fs)
NM_000494.4(COL17A1):c.3462_3463del (p.Gly1155fs)
NM_000494.4(COL17A1):c.3598G>T (p.Asp1200Tyr)
NM_000494.4(COL17A1):c.4147_4148del (p.Ser1383fs)
NM_000494.4(COL17A1):c.4156+2dup
NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter) rs561588576
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.143del (p.Pro48fs) rs1603038146
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.167C>T (p.Pro56Leu)
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_001177676.2(GPR68):c.78_83delinsC (p.Val27fs) rs2140845247
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.1122A>C (p.Gln374His) rs916966344
NM_004771.4(MMP20):c.611A>G (p.His204Arg) rs786204826
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln) rs199788797
NM_004771.4(MMP20):c.678T>A (p.His226Gln) rs587777515
NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr) rs1565397250
NM_004771.4(MMP20):c.809_811+12delinsCCAG rs1859555583
NM_004771.4(MMP20):c.[1046C>T;911C>G]
NM_004917.5(KLK4):c.170C>A (p.Ser57Ter) rs1185328501
NM_004917.5(KLK4):c.245del (p.Gly82fs) rs786204825
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu) rs1555617226
NM_005220.3(DLX3):c.561_562del (p.Tyr188fs) rs387906406
NM_005220.3(DLX3):c.571_574del (p.Gly191fs) rs387906405
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764
NM_016519.6(AMBN):c.294+140_531+479del
NM_016519.6(AMBN):c.532-1G>C rs146238585
NM_016519.6(AMBN):c.539dup (p.Val181fs)
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC rs2143495812
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) rs2143965549
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.1447del (p.Glu483fs) rs762205955
NM_017565.4(FAM20A):c.188dup (p.Asp63fs)
NM_017565.4(FAM20A):c.349_367del (p.Leu117fs) rs766926330
NM_017565.4(FAM20A):c.34_35del (p.Leu12fs) rs587776911
NM_017565.4(FAM20A):c.466C>T (p.Arg156Ter)
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_017565.4(FAM20A):c.727C>T (p.Arg243Ter)
NM_017565.4(FAM20A):c.907_908del (p.Ser303fs)
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) rs760163489
NM_017565.4(FAM20A):c.[129del;734_735del]
NM_031889.3(ENAM):c.-61+1G>A rs2109817825
NM_031889.3(ENAM):c.123+2T>G rs1553887511
NM_031889.3(ENAM):c.157A>T (p.Lys53Ter) rs121908109
NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter) rs1553888384
NM_031889.3(ENAM):c.534+1G>A rs587776587
NM_031889.3(ENAM):c.588+1del rs752102959
NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) rs1060499539
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111
NM_152222.2(RELT):c.121-2A>G rs1565222166
NM_152222.2(RELT):c.1265G>C (p.Arg422Pro) rs762816338
NM_152222.2(RELT):c.164C>T (p.Thr55Ile) rs1866200282
NM_153646.4(SLC24A4):c.1192C>T (p.Gln398Ter) rs1595312054
NM_153646.4(SLC24A4):c.1495A>T (p.Ser499Cys) rs587777536
NM_153646.4(SLC24A4):c.437C>T (p.Ala146Val) rs587777537
NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter) rs141131742
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.1287_1289del (p.Ile430del)
NM_182758.4(WDR72):c.1766-2423_1962+1074del
NM_182758.4(WDR72):c.2332dup (p.Met778fs)
NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter) rs267607178
NM_182758.4(WDR72):c.2680_2699delinsACTATAGTT (p.Ser894fs)
NM_182758.4(WDR72):c.2857del (p.Ser953fs) rs606231351
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter) rs143816093
NM_182758.4(WDR72):c.997A>T (p.Lys333Ter)
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.1309_1311delinsTAA (p.His437Ter) rs2129674608
NM_198488.5(FAM83H):c.1309_1311delinsTAG (p.His437Ter)
NM_198488.5(FAM83H):c.1330C>T (p.Gln444Ter) rs1818377152
NM_198488.5(FAM83H):c.1363C>T (p.Gln455Ter) rs2129674125
NM_198488.5(FAM83H):c.1366C>T (p.Gln456Ter) rs387907056
NM_198488.5(FAM83H):c.1375C>T (p.Gln459Ter)
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.1828G>T (p.Glu610Ter) rs1554622736
NM_198488.5(FAM83H):c.1872_1873del (p.Leu625fs) rs796065022
NM_198488.5(FAM83H):c.1915A>T (p.Lys639Ter) rs2129668758
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.926_927del (p.Val309fs) rs1554623490
NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)
NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter) rs137854435
NM_212557.4(AMTN):c.54+1348_330+98delinsCTCA

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