ClinVar Miner

List of variants reported as likely pathogenic for Congenital stationary night blindness

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_002905.5(RDH5):c.839G>A (p.Arg280His) rs62638193 0.00011
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197 0.00009
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 0.00003
NM_000283.4(PDE6B):c.293G>A (p.Arg98His) rs776050413 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001252024.2(TRPM1):c.3214dup (p.Trp1072fs) rs770380556 0.00001
NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu) rs1553186509
NM_000843.4(GRM6):c.118_132del (p.Thr40_Leu44del) rs1237461749
NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs) rs1200683561
NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer) rs886043488
NM_001034853.2(RPGR):c.633del (p.Tyr212fs) rs1555966753
NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr) rs1555418784
NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu) rs748046539
NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu) rs1555424849
NM_001252024.2(TRPM1):c.618+3_618+6del rs781610444
NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg) rs1555424166
NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter) rs1557110046
NM_001256789.3(CACNA1F):c.1433_1463+7del rs1557109912
NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs) rs1557109796
NM_001256789.3(CACNA1F):c.2733+1G>A rs1557108147
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys) rs1557107417
NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs) rs1557107192
NM_001256789.3(CACNA1F):c.4261-9G>A rs1602628429
NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu) rs1557106008
NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu) rs1602627593
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter) rs1557110988
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly) rs1602181006
NM_001378477.3(NYX):c.335T>A (p.Leu112Gln) rs1602180352
NM_001378477.3(NYX):c.481G>C (p.Ala161Pro) rs1602180478
NM_001378477.3(NYX):c.977TCTTCC[1] (p.326LF[1]) rs1555967281
NM_002900.3(RBP3):c.826TTC[2] (p.Phe278del) rs782604129
NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter) rs1594580431

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