ClinVar Miner

List of variants reported as likely pathogenic for congenital stationary night blindness 1A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001378477.3(NYX):c.1293dup (p.Leu432fs) rs2147026677
NM_001378477.3(NYX):c.23-1_23delinsTT rs1555967031
NM_001378477.3(NYX):c.419_420delinsAA (p.Cys140Ter)
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup) rs2064376509
NM_001378477.3(NYX):c.944_971dup (p.Phe327fs)

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