ClinVar Miner

List of variants reported as benign for congenital stationary night blindness autosomal dominant 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.-26A>G rs7984 0.38071
NM_000539.3(RHO):c.*912A>G rs2855558 0.37600
NM_000539.3(RHO):c.*232A>G rs2410 0.12892
NM_000539.3(RHO):c.*925T>C rs60645924 0.11065
NM_000539.3(RHO):c.-51G>A rs2269736 0.08270
NM_000539.3(RHO):c.696+4C>T rs56340615 0.07633
NM_000539.3(RHO):c.*313C>T rs55941599 0.02366
NM_000539.3(RHO):c.*1601C>T rs187923166 0.01177
NM_000539.3(RHO):c.*488T>C rs78163008 0.01127
NM_000539.3(RHO):c.*33C>T rs113310993 0.01076
NM_000539.3(RHO):c.*1278G>T rs113312341 0.00359
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_000539.3(RHO):c.*205C>T rs202215179 0.00170
NM_000539.3(RHO):c.*467A>G rs148165044 0.00161
NM_000539.3(RHO):c.*1200T>C rs538744995 0.00051
NM_000539.3(RHO):c.519C>T (p.Ala173=) rs149722668 0.00029
NM_000539.3(RHO):c.361+10G>A rs372128112 0.00010
NM_000539.3(RHO):c.744G>A (p.Lys248=) rs141185480 0.00010
NM_000539.3(RHO):c.*1099G>A rs3733148
NM_000539.3(RHO):c.*43C>A rs2071093
NM_000539.3(RHO):c.*959A>G rs368910470

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