ClinVar Miner

List of variants in gene TPP1 reported as pathogenic by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 4
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HGVS dbSNP
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955

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