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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter)	rs764802895	0.00002
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter)	rs1380954046	0.00001
NM_004287.5(GOSR2):c.161del (p.Leu54fs)	rs2146892080
NM_004287.5(GOSR2):c.179dup (p.Pro60_Asn61insTer)
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)	rs772523876
NM_004287.5(GOSR2):c.210del (p.Asp71fs)	rs2146911959
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)	rs1176366316
NM_004287.5(GOSR2):c.241C>T (p.Gln81Ter)
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)	rs2087484070
NM_004287.5(GOSR2):c.262del (p.Gln88fs)	rs776869841

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