ClinVar Miner

List of variants studied for amelogenesis imperfecta by Leeds Amelogenesis Imperfecta Research Group, University of Leeds

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_152222.2(RELT):c.1264C>T (p.Arg422Trp) rs139368769 0.00108
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) rs146148316 0.00011
NM_000494.4(COL17A1):c.3277+1G>A rs199527325 0.00010
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773 0.00003
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter) rs1564685400 0.00001
NM_004917.5(KLK4):c.632del (p.Leu211fs) rs556734208 0.00001
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
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.2912del (p.Pro971fs)
NM_000494.4(COL17A1):c.2947+2T>C
NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)
NM_000494.4(COL17A1):c.3397C>T (p.Arg1133Cys)
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.3595G>C (p.Glu1199Gln)
NM_000494.4(COL17A1):c.3605C>T (p.Ser1202Leu)
NM_000494.4(COL17A1):c.4147_4148del (p.Ser1383fs)
NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)
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_004771.4(MMP20):c.1122A>C (p.Gln374His) rs916966344
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln) rs199788797
NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr) rs1565397250
NM_004771.4(MMP20):c.809_811+12delinsCCAG rs1859555583
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu) rs1555617226
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764
NM_016519.6(AMBN):c.295T>C (p.Tyr99His)
NM_016519.6(AMBN):c.539dup (p.Val181fs)
NM_016519.6(AMBN):c.571-1G>C
NM_016519.6(AMBN):c.76G>A (p.Ala26Thr)
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.164C>T (p.Thr55Ile) rs1866200282

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