ClinVar Miner

List of variants reported as benign for Congenital myasthenic syndrome

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.*745G>A rs1053751 0.81649
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_000080.4(CHRNE):c.*743T>G rs1053754 0.54233
NM_000080.4(CHRNE):c.*144T>C rs12936083 0.46955
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_000080.4(CHRNE):c.*868G>T rs7774 0.36651
NM_000080.4(CHRNE):c.*837A>G rs8834 0.35557
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_000080.4(CHRNE):c.*437G>C rs3514 0.19221
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18207
NM_000080.4(CHRNE):c.*61C>T rs12940036 0.17963
NM_000080.4(CHRNE):c.917+15C>G rs12942540 0.16130
NM_000080.4(CHRNE):c.*906G>C rs9914357 0.15373
NM_005055.5(RAPSN):c.193-15C>T rs45547231 0.11040
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486 0.07419
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000080.4(CHRNE):c.345-7C>T rs72835059 0.07330
NM_000080.4(CHRNE):c.*65C>T rs56067981 0.07310
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06916
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_000080.4(CHRNE):c.-8G>A rs77481135 0.03561
NM_000080.4(CHRNE):c.*37G>A rs2229199 0.03285
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_000080.4(CHRNE):c.*43T>C rs2229200 0.03101
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02644
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_000080.4(CHRNE):c.*930T>G rs116802199 0.02600
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01772
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_000080.4(CHRNE):c.*610C>T rs144554248 0.01191
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_000079.4(CHRNA1):c.*426C>A rs115375214 0.00774
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
NM_000751.3(CHRND):c.*1240T>C rs77032539 0.00340
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588 0.00133
NM_000080.4(CHRNE):c.*748G>A rs536398300 0.00111
NM_005055.5(RAPSN):c.776G>A (p.Arg259His) rs766051613 0.00024
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=) rs372862723 0.00016
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207 0.00013
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_005055.5(RAPSN):c.691-11del rs34729771

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