ClinVar Miner

List of variants in gene TPP1 reported as uncertain significance by Counsyl

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Total variants: 10
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HGVS dbSNP
NM_000391.3(TPP1):c.1042_1047del6 (p.Ala348_Ala349del) rs1554901785
NM_000391.3(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.3(TPP1):c.1547_1548delTT (p.Phe516Terfs) rs763961289
NM_000391.3(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263
NM_000391.3(TPP1):c.225A>G (p.Gln75=) rs368709098
NM_000391.3(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.3(TPP1):c.508+2dup rs1554902017
NM_000391.3(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.3(TPP1):c.833A>C (p.Gln278Pro) rs796053439

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