ClinVar Miner

List of variants in gene TTC21B reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) rs185089786
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter) rs387907059
NM_024753.5(TTC21B):c.2384T>C (p.Leu795Pro) rs387907060
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977
NM_024753.5(TTC21B):c.2758-2A>G rs766132877
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) rs1553506530
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250

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