ClinVar Miner

List of variants in gene PEX6 reported by Leeds Amelogenesis Imperfecta Research Group,Leeds University

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Total variants: 7
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HGVS dbSNP
NM_000287.3(PEX6):c.1314_1321delGGAGGCCT (p.Glu439Glyfs) rs267608216
NM_000287.3(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.3(PEX6):c.2714G>T (p.Cys905Phe) rs886037782
NM_000287.3(PEX6):c.275T>G (p.Val92Gly) rs886037780
NM_000287.3(PEX6):c.296G>T (p.Arg99Leu) rs886037781
NM_000287.3(PEX6):c.654C>G (p.Phe218Leu) rs886037779

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