ClinVar Miner

List of variants reported as likely pathogenic for Progressive myoclonic epilepsy type 3 by Gene Discovery Core-Manton Center, Boston Children's Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp)	rs750770298	0.00001
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr)	rs2116775490

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