ClinVar Miner

List of variants studied for Congenital stationary night blindness by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 27
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HGVS dbSNP gnomAD frequency
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_001252024.2(TRPM1):c.3214dup (p.Trp1072fs) rs770380556 0.00001
NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter) rs61751398
NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu) rs1553186509
NM_000843.4(GRM6):c.118_132del (p.Thr40_Leu44del) rs1237461749
NM_000843.4(GRM6):c.577del (p.Val193fs) rs781463257
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
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.1218del (p.Trp407fs) rs1557110192
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.2872C>T (p.Arg958Ter) rs122456134
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.4439C>T (p.Pro1480Leu) rs1557106008
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.977TCTTCC[1] (p.326LF[1]) rs1555967281
NM_002900.3(RBP3):c.826TTC[2] (p.Phe278del) rs782604129

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