ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr) rs1085307673 0.00004
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998 0.00004
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) rs1315730321 0.00001
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179 0.00001
NM_000391.4(TPP1):c.1146C>A (p.Ser382Arg) rs2493797070
NM_000391.4(TPP1):c.1443_1444delinsCT (p.Gly482Trp) rs2493795992
NM_000391.4(TPP1):c.1445G>C (p.Gly482Ala) rs2493795985
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) rs1060502179
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.625T>C (p.Tyr209His)
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg) rs1855595805
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780

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