List of variants in gene AGRN reported as likely pathogenic for Congenital myasthenic syndrome 8

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_198576.4(AGRN):c.5012G>A (p.Arg1671Gln)	rs769667244	0.00002
NM_198576.4(AGRN):c.3250+1G>A	rs759853904	0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	rs764160563	0.00001
NM_198576.4(AGRN):c.1177+4_1177+50del	rs765679438
NM_198576.4(AGRN):c.1798+1G>T
NM_198576.4(AGRN):c.1799-1G>A
NM_198576.4(AGRN):c.2371+1G>T
NM_198576.4(AGRN):c.3632-1G>C
NM_198576.4(AGRN):c.3632-2del
NM_198576.4(AGRN):c.464-2A>G
NM_198576.4(AGRN):c.4745-47_4753del	rs1570242061
NM_198576.4(AGRN):c.4922dup (p.Asn1641fs)	rs2100682020
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
NM_198576.4(AGRN):c.5254-1_5261del
NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro)	rs1557721600
NM_198576.4(AGRN):c.5302G>A (p.Ala1768Thr)
NM_198576.4(AGRN):c.5876+1G>A	rs532386334
NM_198576.4(AGRN):c.6057_6060delinsT (p.Val2022del)
NM_198576.4(AGRN):c.952+1_952+3del

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