ClinVar Miner

List of variants studied for Myasthenic syndrome, congenital, 22 by Revvity Omics, Revvity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.450A>C (p.Lys150Asn) rs142981913 0.00049
NM_001171613.2(PREPL):c.1753+1G>T rs148092524 0.00009
NM_001171613.2(PREPL):c.1597C>T (p.Arg533Cys) rs145088151 0.00003
NM_001171613.2(PREPL):c.-49+1734C>T rs374594354 0.00001
NM_001171613.2(PREPL):c.1058G>A (p.Arg353His) rs766402014 0.00001
NM_001171613.2(PREPL):c.1015_1018del (p.Phe339fs) rs748639083
NM_001171613.2(PREPL):c.1629+30C>T
NM_001171613.2(PREPL):c.1703C>T (p.Thr568Ile)
NM_001171613.2(PREPL):c.332C>T (p.Pro111Leu)

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