ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2 by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000001.10:g.216144119_216591855del447737
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter) rs1580905929
NM_032119.4(ADGRV1):c.17974-1G>C rs1581711527

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