ClinVar Miner

List of variants reported for Progressive myoclonic epilepsy type 3 by Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)	rs754476100	0.00001
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)	rs867319899

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