Search by ClinVar Variants (in JoGo)

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

e.g. ALDH2, HBB.

Chromosome name (e.g., chr11).

Type of splice site (donor or acceptor).

ClinVar clinical significance classification.

Yes: This position is a confirmed splice junction in this transcript. No: This position is a predicted splice candidate, but not used in this transcript.

Start genomic position (GRCh38).

End genomic position (GRCh38).

Exact genomic position (GRCh38).

Splice site score threshold (minimum).

Maximum splice score threshold.

Minimum splice score threshold.

Score difference threshold (max - min).

Choose a field to sort by.

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Please provide at least one search criterion: genename, regionname, pos, clinsig, score, max, min, or diff.