ClinVar Miner

List of variants studied for Congenital Myasthenic Syndrome, Recessive

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_005677.3(COLQ):c.-136G>C rs9836565 0.20379
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_005677.3(COLQ):c.-96C>T rs151131743 0.00238
NM_005677.3(COLQ):c.-121G>A rs113510832 0.00076
NM_005055.4(RAPSN):c.-202C>T rs886048390 0.00016
NM_001244710.2(GFPT1):c.2056-10del rs372477414 0.00015
NM_005055.4(RAPSN):c.-190A>G rs757221861 0.00013
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115 0.00009
NM_005055.4(RAPSN):c.*216A>G rs886048384 0.00007
NM_000334.4(SCN4A):c.*670T>G rs148552329 0.00003
NM_001244710.2(GFPT1):c.*5354G>A rs113138427 0.00003
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr) rs545915312 0.00003
NM_005677.3(COLQ):c.-122C>T rs886058114 0.00001
NM_000334.4(SCN4A):c.*1205C>G rs886053241
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3] rs112489358
NM_000334.4(SCN4A):c.*1679TG[7] rs66908473
NM_001244710.2(GFPT1):c.*1974CA[8] rs751417979
NM_001244710.2(GFPT1):c.*2510del rs370178312
NM_001244710.2(GFPT1):c.*3805del rs35829957
NM_001244710.2(GFPT1):c.*3987_*3989del rs141942218
NM_001244710.2(GFPT1):c.*5195_*5199delinsTGTCTTTTTTATA rs886056235
NM_001244710.2(GFPT1):c.*5288TC[9] rs747325928
NM_001244710.2(GFPT1):c.*5401dup rs879750913
NM_001244710.2(GFPT1):c.*5901del rs886056231
NM_001244710.2(GFPT1):c.1324+13del rs113734896
NM_001244710.2(GFPT1):c.2056-11del rs201268947
NM_001244710.2(GFPT1):c.2056-12_2056-11del rs201268947
NM_005055.5(RAPSN):c.-73_-72insAT rs759559668
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005592.4(MUSK):c.1927+9dup rs555725730
NM_005677.3(COLQ):c.-120_-119CA[9] rs746566925
NM_005677.3(COLQ):c.-121_-120insCGCA rs886058112
NM_005677.3(COLQ):c.-121delGinsACACACGCA rs886058113
NM_005677.3(COLQ):c.-122_-121delCG rs530131087
NM_005677.3(COLQ):c.-122_-121dup rs530131087
NM_005677.3(COLQ):c.-124_-121delCACG rs886058111
NM_005677.3(COLQ):c.-136_-135delGA rs201205850

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