List of variants in gene PREPL reported as likely pathogenic for congenital myasthenic syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001171613.2(PREPL):c.1753+1G>T	rs148092524	0.00009
NM_001171613.2(PREPL):c.888+1G>A	rs758019788	0.00003
NM_001171613.2(PREPL):c.-49+1734C>T	rs374594354	0.00001
NM_001171613.2(PREPL):c.1262+1G>A	rs1172015222	0.00001
NM_001171613.2(PREPL):c.1263-1G>C	rs1316112168	0.00001
NM_001171613.2(PREPL):c.-48-2A>G	rs753545038
NM_001171613.2(PREPL):c.-48-2A>T
NM_001171613.2(PREPL):c.1086+2T>C
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter)	rs1673549822
NM_001171613.2(PREPL):c.1412_1479+41del
NM_001171613.2(PREPL):c.1553G>A (p.Trp518Ter)	rs1673169930
NM_001171613.2(PREPL):c.1753+2T>C
NM_001171613.2(PREPL):c.350-1G>T
NM_001171613.2(PREPL):c.703-2A>G	rs2103914962
NM_001171613.2(PREPL):c.981dup (p.Tyr328fs)	rs1553354962

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