ClinVar Miner

List of variants reported as benign for congenital myasthenic syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000080.4(CHRNE):c.*745G>A rs1053751 0.82079
NM_000334.4(SCN4A):c.*710T>C rs2532111 0.67728
NM_001244710.2(GFPT1):c.*3065G>A rs7568296 0.67342
NM_001244710.2(GFPT1):c.*5001G>A rs13396883 0.66919
NM_001244710.2(GFPT1):c.*3285A>G rs7579532 0.66906
NM_001244710.2(GFPT1):c.*6085C>G rs7642 0.66555
NM_001244710.2(GFPT1):c.*2269A>G rs10198171 0.66442
NM_001244710.2(GFPT1):c.*4059A>G rs13751 0.65899
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_001244710.2(GFPT1):c.*3091A>C rs7582334 0.65873
NM_001244710.2(GFPT1):c.*2669C>T rs10185336 0.65232
NM_001244710.2(GFPT1):c.*800G>T rs2667 0.65228
NM_001244710.2(GFPT1):c.*2310A>G rs10198150 0.65225
NM_001244710.2(GFPT1):c.*4730G>A rs28694003 0.65218
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_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_005677.4(COLQ):c.*344C>T rs2278961 0.46594
NM_000080.4(CHRNE):c.*144T>C rs12936083 0.46557
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_005677.4(COLQ):c.*365A>T rs2278962 0.44285
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_005677.4(COLQ):c.*1001G>A rs3846128 0.37381
NM_000080.4(CHRNE):c.*868G>T rs7774 0.36651
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.*837A>G rs8834 0.34040
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly) rs17856697 0.24673
NM_000080.4(CHRNE):c.*437G>C rs3514 0.19221
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18524
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_000080.4(CHRNE):c.*61C>T rs12940036 0.17963
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_000747.3(CHRNB1):c.*68T>C rs2302764 0.17079
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000747.3(CHRNB1):c.610+6T>C rs2302765 0.16463
NM_005592.4(MUSK):c.402G>A (p.Glu134=) rs10980531 0.16445
NM_000080.4(CHRNE):c.917+15C>G rs12942540 0.16257
NM_000747.3(CHRNB1):c.*281T>C rs3855924 0.16205
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000080.4(CHRNE):c.*906G>C rs9914357 0.15504
NM_005592.4(MUSK):c.537C>T (p.Asn179=) rs41279051 0.13243
NM_001244710.2(GFPT1):c.*4826A>C rs67016706 0.12917
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly) rs35176182 0.12204
NM_005055.5(RAPSN):c.193-15C>T rs45547231 0.11254
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.*57C>T rs45617144 0.10726
NM_005677.4(COLQ):c.-46G>A rs73033051 0.09699
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile) rs2274419 0.09566
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_000334.4(SCN4A):c.*563G>A rs2532112 0.08626
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486 0.07419
NM_000080.4(CHRNE):c.*65C>T rs56067981 0.07414
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000080.4(CHRNE):c.345-7C>T rs72835059 0.07330
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_005677.4(COLQ):c.*515C>T rs10154896 0.06822
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06582
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_000080.4(CHRNE):c.-8G>A rs77481135 0.03561
NM_000080.4(CHRNE):c.*37G>A rs2229199 0.03523
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000080.4(CHRNE):c.*43T>C rs2229200 0.03101
NM_000080.4(CHRNE):c.*930T>G rs116802199 0.02701
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02647
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_005677.4(COLQ):c.556-15A>G rs57376327 0.02543
NM_001244710.2(GFPT1):c.*1244G>T rs73937246 0.02428
NM_001244710.2(GFPT1):c.*6094C>T rs55888680 0.02423
NM_005677.4(COLQ):c.1248C>T (p.Asp416=) rs55866379 0.02373
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_005592.4(MUSK):c.299C>T (p.Thr100Met) rs35142681 0.02176
NM_000334.4(SCN4A):c.*1611A>G rs16947280 0.02126
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
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_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_005055.5(RAPSN):c.*207C>A rs73459751 0.01891
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_000334.4(SCN4A):c.*1368G>C rs113385942 0.01686
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_005592.4(MUSK):c.-82T>C rs41279047 0.01527
NM_000334.4(SCN4A):c.*332C>T rs77962116 0.01507
NM_000747.3(CHRNB1):c.821-9C>T rs76001008 0.01413
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_001244710.2(GFPT1):c.*2685A>G rs74972420 0.01293
NM_001244710.2(GFPT1):c.*2219C>T rs149217357 0.01291
NM_000080.4(CHRNE):c.*610C>T rs144554248 0.01282
NM_001244710.2(GFPT1):c.408+7A>T rs112682152 0.01229
NM_001244710.2(GFPT1):c.*603G>A rs78097440 0.01222
NM_001244710.2(GFPT1):c.*1085A>G rs75177078 0.01153
NM_001244710.2(GFPT1):c.*4053T>A rs4128250 0.01067
NM_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr) rs76927517 0.01042
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=) rs78952091 0.00975
NM_000334.4(SCN4A):c.*1989C>T rs77615646 0.00968
NM_005677.4(COLQ):c.*492G>A rs116231717 0.00917
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_000079.4(CHRNA1):c.*426C>A rs115375214 0.00774
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_000334.4(SCN4A):c.*1088A>G rs77725962 0.00759
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000334.4(SCN4A):c.*1215G>A rs112758825 0.00696
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His) rs79843573 0.00659
NM_001244710.2(GFPT1):c.*4403G>T rs148687340 0.00642
NM_001244710.2(GFPT1):c.*6366T>C rs115964031 0.00633
NM_005677.4(COLQ):c.393+11C>T rs909353 0.00630
NM_001244710.2(GFPT1):c.*2511T>A rs60949141 0.00572
NM_005677.4(COLQ):c.*994G>A rs77521642 0.00563
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
NM_005055.5(RAPSN):c.193-14G>A rs114738594 0.00529
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172 0.00509
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736 0.00506
NM_000751.3(CHRND):c.*1240T>C rs77032539 0.00369
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_000747.3(CHRNB1):c.*287C>T rs548074838 0.00197
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_001244710.2(GFPT1):c.*3781G>T rs116952694 0.00177
NM_153827.5(MINK1):c.*701C>T rs536398300 0.00111
NM_000747.3(CHRNB1):c.*433A>G rs150545965 0.00093
NM_000747.3(CHRNB1):c.*755A>C rs80058486 0.00037
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=) rs372862723 0.00016
NM_000334.4(SCN4A):c.-33C>T rs575313119 0.00010
NM_000747.3(CHRNB1):c.1394T>C (p.Met465Thr) rs201776800 0.00009
NM_000080.4(CHRNE):c.*743T>G rs1053754
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_000334.4(SCN4A):c.*981G>A rs144800677
NM_001244710.2(GFPT1):c.*2907C>T rs7568674
NM_001244710.2(GFPT1):c.*3345C>T rs73937245
NM_001244710.2(GFPT1):c.*870C>A rs77753566
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005677.4(COLQ):c.*1395C>T rs3274
NM_005677.4(COLQ):c.1338C>A (p.Ile446=) rs73818504

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