ClinVar Miner

List of variants in gene TPP1 reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000391.4(TPP1):c.1089C>T (p.Ala363=) rs151068181
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.4(TPP1):c.1266+8T>C rs752269166
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1426-10A>T rs200965587
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1569T>C (p.His523=) rs1029334403
NM_000391.4(TPP1):c.1593A>G (p.Val531=) rs1554901473
NM_000391.4(TPP1):c.18-10G>T rs778206032
NM_000391.4(TPP1):c.219T>C (p.Ser73=) rs1456089848
NM_000391.4(TPP1):c.229+8T>C rs1263525920
NM_000391.4(TPP1):c.297G>A (p.Val99=) rs753066277
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021
NM_000391.4(TPP1):c.381-4C>G rs529421892
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.544C>T (p.Leu182=) rs776858324
NM_000391.4(TPP1):c.669C>T (p.Asn223=) rs1554901936
NM_000391.4(TPP1):c.688-4A>G rs370683758
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923

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