ClinVar Miner

List of variants studied for Progressive myoclonic epilepsy type 6 by Illumina Laboratory Services, Illumina

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004287.5(GOSR2):c.29+8C>T	rs573306680	0.00029
NM_004287.5(GOSR2):c.94+7A>C	rs376231923	0.00016
NM_004287.5(GOSR2):c.336+9G>A	rs200210055	0.00013
NM_004287.5(GOSR2):c.29+13C>T	rs747791818	0.00002

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