ClinVar Miner

List of variants in gene TPP1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171 0.00039
NM_000391.4(TPP1):c.688-18C>T rs376868997 0.00038
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) rs140809393 0.00021
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021 0.00010
NM_000391.4(TPP1):c.509-5T>C rs375548657 0.00006
NM_000391.4(TPP1):c.1551+8T>C rs757218133 0.00004
NM_000391.4(TPP1):c.1362A>G (p.Ala454=) rs141701073 0.00001
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923 0.00001
NM_000391.4(TPP1):c.1146-5C>T rs2134592207
NM_000391.4(TPP1):c.918G>A (p.Gln306=) rs943551240

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