ClinVar Miner

List of variants reported for Cohen syndrome by GenomeConnect - Invitae Patient Insights Network

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile) rs200519753 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006

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