List of variants reported as likely pathogenic for tooth hard tissue disease

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

Total variants: 117

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HGVS	dbSNP	gnomAD frequency
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)	rs61730849	0.00180
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_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)	rs769967565	0.00004
NM_000228.3(LAMB3):c.1597+1G>T	rs1553277072	0.00001
NM_000888.5(ITGB6):c.129G>A (p.Trp43Ter)	rs755330939	0.00001
NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter)	rs746063338	0.00001
NM_000228.3(LAMB3):c.1192C>T (p.Gln398Ter)
NM_000228.3(LAMB3):c.1201_1202del (p.Cys401fs)
NM_000228.3(LAMB3):c.1288+1G>T	rs1186161867
NM_000228.3(LAMB3):c.1357del (p.Cys453fs)
NM_000228.3(LAMB3):c.1410del (p.His469_Trp470insTer)
NM_000228.3(LAMB3):c.1472del (p.Pro491fs)
NM_000228.3(LAMB3):c.1485+1G>A
NM_000228.3(LAMB3):c.1676del (p.Gly558_Leu559insTer)	rs1666431089
NM_000228.3(LAMB3):c.2242G>T (p.Glu748Ter)
NM_000228.3(LAMB3):c.2495del (p.Ala832fs)
NM_000228.3(LAMB3):c.2701+2T>C
NM_000228.3(LAMB3):c.28+1G>T	rs113077137
NM_000228.3(LAMB3):c.28+2dup
NM_000228.3(LAMB3):c.2911_2938del
NM_000228.3(LAMB3):c.2926del (p.Val976fs)
NM_000228.3(LAMB3):c.3004C>T (p.Gln1002Ter)
NM_000228.3(LAMB3):c.3061_3063delinsAAAAGCTG (p.Val1021fs)
NM_000228.3(LAMB3):c.314del (p.Ser105fs)
NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)
NM_000228.3(LAMB3):c.3305del (p.Gly1102fs)
NM_000228.3(LAMB3):c.3382+1G>A	rs112988476
NM_000228.3(LAMB3):c.3383-1G>A	rs1553275070
NM_000228.3(LAMB3):c.372+2T>G	rs1057516675
NM_000228.3(LAMB3):c.435_436del (p.Tyr146fs)	rs1666824858
NM_000228.3(LAMB3):c.532C>T (p.Gln178Ter)
NM_000228.3(LAMB3):c.568C>T (p.Gln190Ter)
NM_000228.3(LAMB3):c.628+2T>A	rs1666753666
NM_000228.3(LAMB3):c.73del (p.Ala25fs)
NM_000228.3(LAMB3):c.81T>G (p.Tyr27Ter)
NM_000494.4(COL17A1):c.1179del (p.Ala394fs)	rs531930614
NM_000494.4(COL17A1):c.1861G>A (p.Gly621Ser)
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
NM_000494.4(COL17A1):c.2030G>A (p.Gly677Asp)
NM_000494.4(COL17A1):c.2435-1G>A
NM_000494.4(COL17A1):c.2947+2T>C
NM_000494.4(COL17A1):c.3595G>C (p.Glu1199Gln)
NM_000888.5(ITGB6):c.1661-3C>G	rs1683256077
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)	rs730880298
NM_000888.5(ITGB6):c.718G>A (p.Glu240Lys)
NM_001130144.3(LTBP3):c.3716G>A (p.Cys1239Tyr)
NM_001142.2(AMELX):c.144+1G>A
NM_001142.2(AMELX):c.289C>T (p.Gln97Ter)	rs2147573600
NM_001142.2(AMELX):c.3G>A (p.Met1Ile)
NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)
NM_004771.4(MMP20):c.359dup (p.Asn120fs)
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	rs199788797
NM_004917.5(KLK4):c.224+2T>C
NM_004917.5(KLK4):c.620_621del (p.Ser207fs)	rs768235705
NM_005220.3(DLX3):c.537C>A (p.Asn179Lys)
NM_005220.3(DLX3):c.574del (p.Glu192fs)	rs1057518764
NM_005220.3(DLX3):c.574dup (p.Glu192fs)	rs1057518764
NM_014208.3(DSPP):c.3135del (p.Ser1045fs)	rs1553904372
NM_014208.3(DSPP):c.3504_3508dup (p.Asp1170fs)	rs1553904512
NM_016519.6(AMBN):c.295T>C (p.Tyr99His)
NM_016519.6(AMBN):c.571-1G>C
NM_016519.6(AMBN):c.76G>A (p.Ala26Thr)
NM_017565.4(FAM20A):c.1092_1093del (p.Leu365fs)
NM_017565.4(FAM20A):c.1112G>A (p.Trp371Ter)
NM_017565.4(FAM20A):c.1207G>A (p.Asp403Asn)
NM_017565.4(FAM20A):c.1219+3_1219+6del	rs2086254952
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)	rs149970399
NM_017565.4(FAM20A):c.1361+1G>A
NM_017565.4(FAM20A):c.278_281dup (p.Leu95fs)
NM_017565.4(FAM20A):c.590-3_590-2delinsAG
NM_017565.4(FAM20A):c.590-5T>A
NM_017565.4(FAM20A):c.610del (p.Ala204fs)
NM_017565.4(FAM20A):c.626dup (p.Cys209fs)
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)	rs2143526006
NM_017565.4(FAM20A):c.813-1G>C
NM_017565.4(FAM20A):c.885del (p.Thr296fs)	rs1568724130
NM_017565.4(FAM20A):c.928+2T>C
NM_031889.3(ENAM):c.588+1dup	rs752102959
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)	rs1060499539
NM_033068.3(ACP4):c.645+1G>A
NM_033068.3(ACP4):c.736G>A (p.Val246Met)
NM_152222.2(RELT):c.260A>T (p.Asp87Val)
NM_152222.2(RELT):c.521T>G (p.Leu174Arg)
NM_182758.4(WDR72):c.118C>T (p.Gln40Ter)
NM_182758.4(WDR72):c.1348+1G>T
NM_182758.4(WDR72):c.166G>T (p.Glu56Ter)
NM_182758.4(WDR72):c.1777dup (p.Arg593fs)
NM_182758.4(WDR72):c.1862C>G (p.Ser621Ter)
NM_182758.4(WDR72):c.2019dup (p.Trp674fs)
NM_182758.4(WDR72):c.2078T>A (p.Leu693Ter)
NM_182758.4(WDR72):c.2127dup (p.Gly710fs)
NM_182758.4(WDR72):c.2146del (p.Ala716fs)
NM_182758.4(WDR72):c.2383_2385delinsCC (p.Ala795fs)
NM_182758.4(WDR72):c.2388del (p.Lys796fs)
NM_182758.4(WDR72):c.2473C>T (p.Gln825Ter)
NM_182758.4(WDR72):c.2555del (p.Gly852fs)
NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)
NM_182758.4(WDR72):c.2871_2872+7del
NM_182758.4(WDR72):c.297C>A (p.Cys99Ter)
NM_182758.4(WDR72):c.37C>T (p.Gln13Ter)
NM_182758.4(WDR72):c.474G>A (p.Trp158Ter)
NM_182758.4(WDR72):c.552_554delinsGGTG (p.Lys185fs)
NM_182758.4(WDR72):c.561G>A (p.Trp187Ter)
NM_182758.4(WDR72):c.591+1G>C
NM_182758.4(WDR72):c.655C>T (p.Arg219Ter)
NM_182758.4(WDR72):c.711_711+1delinsTT
NM_182758.4(WDR72):c.733dup (p.Ser245fs)
NM_182758.4(WDR72):c.858-1G>C
NM_182758.4(WDR72):c.858-2A>G
NM_182758.4(WDR72):c.868_880del (p.Lys290fs)
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)	rs770804941
NM_182758.4(WDR72):c.954+1_954+10del
NM_182758.4:c.-13+989_7del

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