List of variants in gene combination PREPL, SLC3A1 reported as benign for Myasthenic syndrome, congenital, 22

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001171613.2(PREPL):c.1828-29A>G	rs2241871	0.68299
NM_001171613.2(PREPL):c.1855G>A (p.Glu619Lys)	rs149012504	0.00562
NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=)	rs375511535	0.00002
NM_001171613.2(PREPL):c.1828-17dup

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