ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 19 by Fulgent Genetics, Fulgent Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001368882.1(COL13A1):c.967-2A>G rs759296053 0.00003
NM_001368882.1(COL13A1):c.999+5G>A rs200322111

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