ClinVar Miner

List of variants in gene TPP1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs) rs1855559514
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207

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