ClinVar Miner

List of variants studied for congenital myasthenic syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala) rs759668768 0.00013
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys) rs773867044 0.00008
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys) rs1156439417 0.00004
NM_001171613.2(PREPL):c.1420G>A (p.Val474Met) rs780954540 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys) rs376385207 0.00002
NM_198576.4(AGRN):c.2338G>A (p.Ala780Thr) rs540467706 0.00002
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr) rs1553575390
NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=) rs555259357
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_002334.4(LRP4):c.3346G>A (p.Glu1116Lys) rs1253557298
NM_173660.5(DOK7):c.626C>T (p.Pro209Leu) rs902286336

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