ClinVar Miner

List of variants reported as pathogenic for congenital stationary night blindness 1B by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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GRM6, 1-BP INS, 720G
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr) rs62638208
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter) rs62638624
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) rs62638625
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser) rs62638202

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