ClinVar Miner

List of variants in gene combination GOSR2, LOC126862578, LRRC37A2 reported as benign for Progressive myoclonic epilepsy

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) rs143754727 0.00052
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu) rs199930484
NM_004287.5(GOSR2):c.95-17T>C rs553054493

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