ClinVar Miner

List of variants in gene TPP1 reported as pathogenic for Inborn genetic diseases

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Total variants: 5
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NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1497del (p.Gly501fs) rs1554901523
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955

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