ClinVar Miner

List of variants in gene combination PREPL, SLC3A1 reported as likely benign for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.1791T>C (p.Pro597=) rs189954086 0.00021
NM_001171613.2(PREPL):c.1906C>T (p.Leu636=) rs147585967 0.00013
NM_001171613.2(PREPL):c.1887C>T (p.Phe629=) rs368734097 0.00009
NM_001171613.2(PREPL):c.1827+15C>T rs376714746 0.00007
NM_001171613.2(PREPL):c.1806A>G (p.Val602=) rs771937635 0.00006
NM_001171613.2(PREPL):c.1828-17T>A rs746448655 0.00005
NM_001171613.2(PREPL):c.1754-20C>T rs1192640537 0.00001
NM_001171613.2(PREPL):c.1827+9T>C rs748870270 0.00001
NM_001171613.2(PREPL):c.1872C>T (p.Asp624=) rs1359281085 0.00001
NM_001171613.2(PREPL):c.1754-7C>T
NM_001171613.2(PREPL):c.1803T>C (p.His601=)
NM_001171613.2(PREPL):c.1827+10C>G rs1295732711
NM_001171613.2(PREPL):c.1827+11A>T
NM_001171613.2(PREPL):c.1827+16C>T
NM_001171613.2(PREPL):c.1827+8A>T
NM_001171613.2(PREPL):c.1828-13G>A
NM_001171613.2(PREPL):c.1828-14T>C
NM_001171613.2(PREPL):c.1828-7C>A rs781459763
NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)
NM_001171613.2(PREPL):c.1848C>T (p.Phe616=) rs776568419
NM_001171613.2(PREPL):c.1851G>C (p.Leu617=) rs771707341
NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)
NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)

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