ClinVar Miner

List of variants studied for congenital myasthenic syndrome by Centogene AG - the Rare Disease Company

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_005677.4(COLQ):c.476G>C (p.Gly159Ala) rs748461738 0.00002
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000747.3(CHRNB1):c.731_732delinsC (p.Lys244fs) rs2150839407
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter) rs1673549822
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153

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