ClinVar Miner

List of variants studied for amelogenesis imperfecta by Dental Genetics Laboratory, Seoul National University School of Dentistry

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004917.5(KLK4):c.637T>C (p.Cys213Arg) rs1266288524 0.00001
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu) rs763573828 0.00001
NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)
NM_000494.4(COL17A1):c.1700G>A (p.Gly567Glu)
NM_000494.4(COL17A1):c.3598G>T (p.Asp1200Tyr)
NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs) rs2140845247
NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met) rs2143647637
NM_004917.5(KLK4):c.170C>A (p.Ser57Ter) rs1185328501
NM_031889.3(ENAM):c.-61+1G>A rs2109817825
NM_031889.3(ENAM):c.123+2T>G rs1553887511
NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter) rs1553888384
NM_033068.3(ACP4):c.262C>A (p.Arg88Ser) rs1190557090
NM_033068.3(ACP4):c.350A>G (p.Gln117Arg) rs2123287930
NM_033068.3(ACP4):c.419C>T (p.Pro140Leu) rs1371134137
NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter) rs141131742
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.2680_2699delinsACTATAGTT (p.Ser894fs)
NM_198488.5(FAM83H):c.1363C>T (p.Gln455Ter) rs2129674125

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