ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta type 2 by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
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_001206981.2(ODAPH):c.112-2A>T rs1560562630
NM_001206981.2(ODAPH):c.173C>A (p.Ala58Asp) rs1560562738
NM_001206981.2(ODAPH):c.273C>T (p.His91=) rs866941536
NM_001206981.2(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs) rs1560558455
NM_001287242.1(ARHGAP6):c.49-45951_49-41228del
NM_004771.4(MMP20):c.102G>A (p.Trp34Ter) rs587777516
NM_004771.4(MMP20):c.611A>G (p.His204Arg) rs786204826
NM_004771.4(MMP20):c.678T>A (p.His226Gln) rs587777515
NM_004771.4(MMP20):c.954-2A>T rs140213840
NM_004917.4(KLK4):c.245del (p.Gly82fs) rs786204825
NM_004917.4(KLK4):c.458G>A (p.Trp153Ter) rs104894704
NM_153648.3(SLC24A4):c.1303A>T (p.Ser435Cys) rs587777536
NM_153648.3(SLC24A4):c.245C>T (p.Ala82Val) rs587777537
NM_153648.3(SLC24A4):c.823C>T (p.Arg275Ter) rs587777535
NM_178497.3(C4orf26):c.318G>A rs146645381
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) rs606231462
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

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