ClinVar Miner

List of variants studied for Myasthenic syndrome, congenital, 22 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter) rs145356495 0.00002
NC_000002.11:g.44559541_44571008del
NM_001171613.2(PREPL):c.1337T>G (p.Leu446Ter) rs1553352792
NM_001171613.2(PREPL):c.540del (p.Ile180_Met181insTer) rs1057523690
NM_001171613.2(PREPL):c.94_97del (p.Val32fs) rs1436090495

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