ClinVar Miner

List of variants reported by Leeds Amelogenesis Imperfecta Research Group,Leeds University

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Total variants: 20
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HGVS dbSNP
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.2714G>T (p.Cys905Phe) rs886037782
NM_000287.4(PEX6):c.275T>G (p.Val92Gly) rs886037780
NM_000287.4(PEX6):c.296G>T (p.Arg99Leu) rs886037781
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000466.3(PEX1):c.1792del (p.Thr598fs) rs886037783
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
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_004917.4(KLK4):c.632del (p.Leu211fs) rs556734208
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu) rs1555617226
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) rs1060499539
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111

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