ClinVar Miner

List of variants studied for Epileptic encephalopathy, early infantile, 50

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Total variants: 8
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HGVS dbSNP
NM_004341.5(CAD):c.1843-1G>A rs769567624
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) rs62130681
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198

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