ClinVar Miner

List of variants reported as benign for cone-rod synaptic disorder, congenital nonprogressive

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_145200.5(CABP4):c.541+7C>G rs1638564 0.53792
NM_145200.5(CABP4):c.*876G>A rs11601325 0.33447
NM_145200.5(CABP4):c.*1697A>G rs2514262 0.14831
NM_145200.5(CABP4):c.*119T>G rs1790736 0.12627
NM_145200.5(CABP4):c.*1857T>C rs11227798 0.12407
NM_145200.5(CABP4):c.*2327G>A rs11227799 0.06318
NM_145200.5(CABP4):c.800-5C>T rs72934713 0.05627
NM_145200.5(CABP4):c.*2195G>A rs11822066 0.01710
NM_145200.5(CABP4):c.*1435G>A rs75914794 0.01709
NM_145200.5(CABP4):c.747C>T (p.Asp249=) rs34573687 0.00924
NM_206997.1(GPR152):c.181G>A (p.Gly61Arg) rs79423227 0.00871
NM_145200.5(CABP4):c.*1859C>T rs7936733 0.00732
NM_145200.5(CABP4):c.*963C>T rs76060170 0.00637
NM_145200.5(CABP4):c.*2679A>G rs77828276 0.00503
NM_145200.5(CABP4):c.53G>A (p.Arg18His) rs140245752 0.00399
NM_145200.5(CABP4):c.*120T>A rs372107215 0.00360
NM_145200.5(CABP4):c.192C>T (p.Pro64=) rs1790765
NM_145200.5(CABP4):c.541+8A>C rs1638565

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