ClinVar Miner

List of variants studied for cone dystrophy 3 by Mendelics

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val) rs10735005 0.91686
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001384910.1(GUCA1A):c.465G>C (p.Glu155Asp) rs2113838890

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