ClinVar Miner

List of variants in gene combination CAD, LOC126806172 reported as uncertain significance for Developmental and epileptic encephalopathy, 50

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.6365G>A (p.Arg2122His) rs553324190 0.00003
NM_004341.5(CAD):c.6253C>T (p.Arg2085Cys) rs376465227 0.00002
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu) rs759380014
NM_004341.5(CAD):c.6436C>G (p.Arg2146Gly) rs745396460

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