ClinVar Miner

List of variants in gene TPP1 reported as likely pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 8
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NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) rs864309505
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) rs869025274
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898

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