ClinVar Miner

List of variants in gene TPP1 reported by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 5
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HGVS dbSNP
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955

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