ClinVar Miner

List of variants reported as likely pathogenic for congenital myasthenic syndrome 6

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_020549.4(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020549.4(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro)
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp)

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