ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) rs141380070 0.00010
NM_004287.5(GOSR2):c.111C>T (p.Ile37=) rs755662176 0.00005
NM_004287.5(GOSR2):c.105C>T (p.Asn35=) rs780832143 0.00003
NM_004287.5(GOSR2):c.204-7A>G rs746177544 0.00003
NM_004287.5(GOSR2):c.231C>T (p.Val77=) rs774359254 0.00002
NM_004287.5(GOSR2):c.177C>T (p.Pro59=) rs1467890727 0.00001
NM_004287.5(GOSR2):c.186A>G (p.Lys62=) rs755897636 0.00001
NM_004287.5(GOSR2):c.203+17G>T rs1323958163 0.00001
NM_004287.5(GOSR2):c.237C>T (p.His79=) rs1186777949 0.00001
NM_004287.5(GOSR2):c.249G>A (p.Ala83=) rs1057520593 0.00001
NM_004287.5(GOSR2):c.95-7T>C rs752611190 0.00001
NM_004287.5(GOSR2):c.156G>A (p.Glu52=)
NM_004287.5(GOSR2):c.174G>A (p.Glu58=)
NM_004287.5(GOSR2):c.203+13dup
NM_004287.5(GOSR2):c.203+8C>G rs1309484909
NM_004287.5(GOSR2):c.204-17C>G rs1202543887
NM_004287.5(GOSR2):c.204-8A>C rs2546255546
NM_004287.5(GOSR2):c.204-9C>T rs2546255498
NM_004287.5(GOSR2):c.219A>G (p.Leu73=) rs2546256056
NM_004287.5(GOSR2):c.300G>A (p.Gln100=) rs2087488656
NM_004287.5(GOSR2):c.95-6G>T rs1345182096
NM_004287.5(GOSR2):c.95-7T>G rs752611190
NM_004287.5(GOSR2):c.99A>G (p.Val33=) rs1555709339

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