ClinVar Miner

List of variants reported as benign for Congenital myasthenic syndrome 8 by Genome-Nilou Lab

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_198576.4(AGRN):c.2255-81G>A rs3128097 0.89344
NM_198576.4(AGRN):c.*156C>T rs2710872 0.87496
NM_198576.4(AGRN):c.1178-6T>C rs2799066 0.86601
NM_198576.4(AGRN):c.2537-26A>G rs3128098 0.84465
NM_198576.4(AGRN):c.3558T>C (p.Phe1186=) rs10267 0.80748
NM_198576.4(AGRN):c.3066A>G (p.Ser1022=) rs2465128 0.79176
NM_198576.4(AGRN):c.1384+238C>T rs2710875 0.79091
NM_198576.4(AGRN):c.3517-12T>C rs3128102 0.78058
NM_198576.4(AGRN):c.5651+5C>T rs9803031 0.77551
NM_198576.4(AGRN):c.1384+28G>A rs2710876 0.77416
NM_198576.4(AGRN):c.5254-190C>T rs2710887 0.76955
NM_198576.4(AGRN):c.6057C>T (p.Asp2019=) rs4275402 0.58285
NM_198576.4(AGRN):c.4161T>C (p.Thr1387=) rs9442391 0.49370
NM_198576.4(AGRN):c.4106-75_4106-74del rs140904842 0.45112
NM_198576.4(AGRN):c.4745-17C>T rs2275813 0.43854
NM_198576.4(AGRN):c.1385-15_1385-14del rs35881187 0.42851
NM_198576.4(AGRN):c.*19C>T rs3121561 0.35770
NM_198576.4(AGRN):c.45G>T (p.Pro15=) rs115173026 0.30814
NM_198576.4(AGRN):c.5652-201G>C rs2710871

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