ClinVar Miner

List of variants reported as uncertain significance for congenital stationary night blindness by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val) rs753430531 0.00002
NM_000843.4(GRM6):c.2003T>C (p.Leu668Pro) rs777168556
NM_000843.4(GRM6):c.527C>T (p.Ser176Phe) rs1581898677

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