ClinVar Miner

List of variants reported as likely pathogenic for Epilepsy, progressive myoclonic 3

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Total variants: 7
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HGVS dbSNP
NC_000007.13:g.(?_66098242)_(66098451_?)dup
NM_153033.4(KCTD7):c.172G>A (p.Gly58Arg) rs750033880
NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp) rs387907260
NM_153033.4(KCTD7):c.314+1G>A rs1554397834
NM_153033.4(KCTD7):c.456G>A (p.Val152=) rs796052686
NM_153033.4(KCTD7):c.533C>T (p.Ala178Val) rs368001837
NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) rs387907246

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