ClinVar Miner

List of variants in gene combination AGRN, LOC129929078 reported as likely benign for Congenital myasthenic syndrome 8

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_198576.4(AGRN):c.5169C>A (p.Ala1723=) rs751301262 0.00004
NM_198576.4(AGRN):c.5181C>G (p.Val1727=) rs1013137001 0.00003
NM_198576.4(AGRN):c.5196C>T (p.Asn1732=) rs1264457871 0.00002
NM_198576.4(AGRN):c.5142-19C>T rs370941734 0.00001
NM_198576.4(AGRN):c.5160C>T (p.Thr1720=) rs758276484 0.00001
NM_198576.4(AGRN):c.5163G>T (p.Leu1721=) rs146855689 0.00001
NM_198576.4(AGRN):c.5142-10T>C
NM_198576.4(AGRN):c.5142-11C>T
NM_198576.4(AGRN):c.5142-13C>T
NM_198576.4(AGRN):c.5142-18G>A
NM_198576.4(AGRN):c.5142-9C>G rs371589437
NM_198576.4(AGRN):c.5187G>A (p.Leu1729=)

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