ClinVar Miner

List of variants reported as benign for Myasthenic syndrome, congenital, 22 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.143-19C>T rs10514790 0.04940
NM_001171613.2(PREPL):c.-49+1898A>G rs77060839 0.04787
NM_001171613.2(PREPL):c.225T>A (p.Ala75=) rs72875319 0.03485
NM_001171613.2(PREPL):c.1502A>G (p.Asn501Ser) rs75128515 0.01014
NM_001171613.2(PREPL):c.1086+15C>T rs76399930 0.00695
NM_001171613.2(PREPL):c.1656A>G (p.Ala552=) rs74395208 0.00617
NM_001171613.2(PREPL):c.1630-15T>C rs113850456 0.00614
NM_001171613.2(PREPL):c.1855G>A (p.Glu619Lys) rs149012504 0.00562
NM_001171613.2(PREPL):c.-49+1813A>T rs78349078 0.00557
NM_001171613.2(PREPL):c.687A>G (p.Glu229=) rs113272276 0.00209
NM_001171613.2(PREPL):c.149A>G (p.Asn50Ser) rs138555092 0.00151
NM_001171613.2(PREPL):c.1479+8C>T rs202009058 0.00097
NM_001171613.2(PREPL):c.75+17C>G rs375409764 0.00046
NM_001171613.2(PREPL):c.-49+1746T>G rs146729699 0.00029
NM_001171613.2(PREPL):c.249C>G (p.Ala83=) rs773977540 0.00013
NM_001171613.2(PREPL):c.349+13C>T rs756110874 0.00012
NM_001171613.2(PREPL):c.-49+1735A>G rs374974603 0.00005
NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=) rs375511535 0.00002
NM_001171613.2(PREPL):c.135T>C (p.Asp45=)
NM_001171613.2(PREPL):c.143-11del rs1558508562
NM_001171613.2(PREPL):c.1480-3del rs763329621
NM_001171613.2(PREPL):c.1753+13dup rs750536957
NM_001171613.2(PREPL):c.1828-17dup
NM_001171613.2(PREPL):c.303C>A (p.Ser101Arg) rs538321114
NM_001171613.2(PREPL):c.350-12_350-10del rs61004197
NM_001171613.2(PREPL):c.486-18CT[7] rs750292662

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