List of variants studied for amelogenesis imperfecta type 2 by Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_182758.4(WDR72):c.118C>T (p.Gln40Ter)	rs142154661	0.00003
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)	rs781178683	0.00001
NM_153646.4(SLC24A4):c.1716+5G>A	rs1234180491	0.00001
NM_182758.4(WDR72):c.2146del (p.Ala716fs)	rs757690372	0.00001
NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)	rs2518744193
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)	rs761478767
NM_004771.4(MMP20):c.359dup (p.Asn120fs)	rs759614533
NM_004771.4(MMP20):c.530G>A (p.Gly177Glu)	rs961549124
NM_004917.5(KLK4):c.443G>T (p.Cys148Phe)	rs143632081
NM_182758.4(WDR72):c.1283T>G (p.Ile428Ser)	rs780003826
NM_182758.4(WDR72):c.2388del (p.Lys796fs)	rs756471926
NM_182758.4(WDR72):c.954+1_954+10del	rs2542109823
NM_182758.4:c.-13+989_7del

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