ClinVar Miner

List of variants in gene CHRNA1 studied for congenital myasthenic syndrome

Included ClinVar conditions (53):
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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.235-385C>T rs2646164 0.99734
NM_000079.4(CHRNA1):c.1003-53A>G rs2646159 0.87287
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_000079.4(CHRNA1):c.*426C>A rs115375214 0.00774
NM_000079.4(CHRNA1):c.*218C>T rs79539026 0.00579
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
NM_000079.4(CHRNA1):c.*499A>T rs574135903 0.00488
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000079.4(CHRNA1):c.-37A>G rs182459320 0.00217
NM_000079.4(CHRNA1):c.*461A>T rs542750994 0.00179
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000079.4(CHRNA1):c.*411G>A rs560280191 0.00057
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) rs146899588 0.00054
NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val) rs367751078 0.00026
NM_000079.4(CHRNA1):c.*383T>C rs768887652 0.00025
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg) rs151081792 0.00020
NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu) rs137852803 0.00020
NM_000079.4(CHRNA1):c.*101C>T rs867744338 0.00016
NM_000079.4(CHRNA1):c.1002+9G>A rs368959759 0.00011
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) rs374093236 0.00007
NM_000079.4(CHRNA1):c.*358C>T rs886055147 0.00006
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) rs886055151 0.00004
NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys) rs536229089 0.00004
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) rs373005571 0.00003
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) rs746404398 0.00003
NM_000079.4(CHRNA1):c.*310C>T rs1453724345 0.00002
NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln) rs769337073 0.00002
NM_000079.4(CHRNA1):c.962G>A (p.Arg321His) rs762938254 0.00002
NM_000079.4(CHRNA1):c.*414T>A rs886055146 0.00001
NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe) rs759664482 0.00001
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) rs771587252 0.00001
NM_000079.4(CHRNA1):c.267A>G (p.Pro89=) rs886055150 0.00001
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) rs779169597 0.00001
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 0.00001
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys) rs745355427 0.00001
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) rs137852798 0.00001
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile) rs137852804 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NM_000079.4(CHRNA1):c.*130A>T rs1683764773
NM_000079.4(CHRNA1):c.*275A>G rs886055148
NM_000079.4(CHRNA1):c.*288G>A rs564090863
NM_000079.4(CHRNA1):c.*422G>T rs184095877
NM_000079.4(CHRNA1):c.*466G>C rs544906046
NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe)
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) rs17838545
NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg) rs61731797
NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp) rs137852808
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)
NM_000079.4(CHRNA1):c.235-353G>A rs2105350984
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs) rs1574007436
NM_000079.4(CHRNA1):c.424G>A (p.Ala142Thr) rs1424077317
NM_000079.4(CHRNA1):c.43+59G>T rs7560774
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu) rs137852807
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000079.4(CHRNA1):c.686G>A (p.Arg229His) rs137852809
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=) rs143252724
NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.737C>A (p.Ser246Tyr) rs483353046
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) rs483353046
NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn)
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr) rs1683899724
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile) rs137852800
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu) rs137852806
NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile) rs137852802
NM_000079.4(CHRNA1):c.902C>G (p.Thr301Ser) rs2105345315

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