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Sugi Variant
Genes Sets Method About

cross-sourced human variant reference

Sugi Variant

One deterministic, cited reference page for every clinically significant human variant — 3,961,230 ClinVar germline variants across 18,799 genes, from 312,788 pathogenic or likely pathogenic through 2,236,650 of uncertain significance. ClinVar, gnomAD v4.1, AlphaMissense, conservation, SpliceAI, ClinGen VCEP codes and more, assembled into one place. Search a variant, gene, or rsID.

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Enter to open · pick a variant to add another and build a set

Try:

PTEN R130Q TP53 R175H rs121909229 BRCA2 gene BRCA1 disagreements

Or compare a set:

TP53 hotspots · 3 PTEN R130 alleles · 3 CFTR variant pair · 2
3,961,230 variants · 18,799 genes · 2,069,929 QC-flagged · open & free

sugi.bio is free and open for everyone. For a custom on-premise deployment on your own data, get in touch.

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