ClinVar Miner

List of variants studied for congenital myasthenic syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.79+2T>G rs200783529 0.00004
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_020549.5(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs) rs1553850100
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993

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