ClinVar Miner

List of variants studied for congenital stationary night blindness 1A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001378477.3(NYX):c.*509G>C rs3021319 0.50557
NM_001378477.3(NYX):c.-57+60A>G rs3013121 0.28288
NM_001378477.3(NYX):c.-57+95T>C rs3013122 0.28228
NM_001378477.3(NYX):c.*414C>T rs58930096 0.02379
NM_001378477.3(NYX):c.*736G>C rs141612904 0.01806
NM_001378477.3(NYX):c.207G>A (p.Leu69=) rs12013709 0.01487
NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly) rs34169326 0.00706
NM_001378477.3(NYX):c.828G>A (p.Glu276=) rs3810733 0.00379
NM_001378477.3(NYX):c.*152A>G rs370733549 0.00277
NM_001378477.3(NYX):c.*103G>A rs750048192 0.00105
NM_001378477.3(NYX):c.1183G>A (p.Gly395Ser) rs189924262 0.00089
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00081
NM_001378477.3(NYX):c.1020G>A (p.Glu340=) rs143486101 0.00079
NM_001378477.3(NYX):c.1212C>T (p.Thr404=) rs187149252 0.00079
NM_001378477.3(NYX):c.-57+46T>C rs777981530 0.00044
NM_001378477.3(NYX):c.*383G>T rs148699627 0.00040
NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe) rs374968384 0.00019
NM_001378477.3(NYX):c.1238C>G (p.Ser413Cys) rs776029387 0.00012
NM_001378477.3(NYX):c.*140G>A rs1011570912 0.00006
NM_001378477.3(NYX):c.-57+99T>C rs945750526 0.00005
NM_001378477.3(NYX):c.368C>T (p.Ala123Val) rs778437203 0.00005
NM_001378477.3(NYX):c.-56-45T>G rs755997910 0.00003
NM_001378477.3(NYX):c.787C>G (p.Arg263Gly) rs375834225 0.00003
NM_001378477.3(NYX):c.*744C>T rs780639009 0.00002
NM_001378477.3(NYX):c.*157C>G rs1057515884
NM_001378477.3(NYX):c.*72T>C rs1057515883
NM_001378477.3(NYX):c.148C>T (p.Arg50Trp) rs1287556040
NM_001378477.3(NYX):c.645C>G (p.Ala215=) rs924692905
NM_001378477.3(NYX):c.722C>T (p.Pro241Leu) rs763017414

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