ClinVar Miner

List of variants studied for Usher syndrome by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NC_000001.10:g.216144119_216591855del447737
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile) rs2132965400
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter) rs1580905929
NM_032119.4(ADGRV1):c.17974-1G>C rs1581711527
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043

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