ClinVar Miner

List of variants in gene TPP1 reported as likely pathogenic by Invitae

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
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.649G>C (p.Gly217Arg) rs1330875156 0.00001
NM_000391.4(TPP1):c.650G>T (p.Gly217Val) rs975304153 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1145+2T>C
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp) rs121908198
NM_000391.4(TPP1):c.1266+1G>A
NM_000391.4(TPP1):c.1266+1G>T
NM_000391.4(TPP1):c.1267-2A>G rs1855562978
NM_000391.4(TPP1):c.1425+2T>G rs2134591515
NM_000391.4(TPP1):c.1426-1G>A rs867927501
NM_000391.4(TPP1):c.1444G>A (p.Gly482Arg)
NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser)
NM_000391.4(TPP1):c.17+1G>A rs779615685
NM_000391.4(TPP1):c.17+2T>A
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) rs1060502179
NM_000391.4(TPP1):c.230-1G>A
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.605C>A (p.Pro202His)
NM_000391.4(TPP1):c.617G>C (p.Arg206Pro) rs121908209
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
NM_000391.4(TPP1):c.649G>A (p.Gly217Ser)
NM_000391.4(TPP1):c.687+2T>A
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.4(TPP1):c.886+2del
NM_000391.4(TPP1):c.90-2A>T rs1855627953

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