ClinVar Miner

List of variants reported as benign for Oguchi disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.733+31T>G rs745498 0.73982
NM_000541.5(SAG):c.436-18G>C rs2304774 0.38156
NM_000541.5(SAG):c.1207G>A (p.Val403Ile) rs1046974 0.30851
NM_000541.5(SAG):c.489C>T (p.Ala163=) rs2304773 0.13074
NM_000541.5(SAG):c.1208T>C (p.Val403Ala) rs1046976 0.12771
NM_000541.5(SAG):c.226A>G (p.Ile76Val) rs7565275 0.06304
NM_000541.5(SAG):c.1047-13T>C rs73995909 0.03685
NM_000541.5(SAG):c.375+11C>T rs74356516 0.03568
NM_000541.5(SAG):c.321G>C (p.Leu107=) rs59676190 0.03222
NM_000541.5(SAG):c.201C>T (p.Cys67=) rs72976383 0.02235
NM_000541.5(SAG):c.*7C>T rs692 0.02006
NM_000541.5(SAG):c.*89C>T rs78338185 0.01526
NM_000541.5(SAG):c.93G>A (p.Gly31=) rs79063407 0.00807
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_000541.5(SAG):c.231C>T (p.Asp77=) rs79922016 0.00524

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