ClinVar Miner

List of variants reported as benign for cone-rod dystrophy by Mendelics

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val) rs10735005 0.91686
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044

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