ClinVar Miner

List of variants in gene TRIOBP reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_001039141.3(TRIOBP):c.251_254+22del rs1555894574
NM_001039141.3(TRIOBP):c.3487_3533del (p.Pro1163fs) rs1569042640

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