ClinVar Miner

List of variants studied for Epilepsy, familial focal, with variable foci 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg) rs760541660 0.00002
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln) rs1064795095 0.00001
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser) rs1229311796
NM_001242896.3(DEPDC5):c.4790A>G (p.Lys1597Arg)

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