ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_004287.4(GOSR2):c.*1062A>T rs16941324
NM_004287.4(GOSR2):c.*1067G>A rs11874
NM_004287.4(GOSR2):c.*1655A>G rs116123534
NM_004287.4(GOSR2):c.*2292C>T rs79673308
NM_004287.4(GOSR2):c.*2293G>A rs77706742
NM_004287.4(GOSR2):c.*2342A>G rs61745471
NM_004287.4(GOSR2):c.405C>T (p.Asn135=) rs753166413
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.4(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_054022.4(GOSR2):c.583+344_583+352dup rs376212419

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