ClinVar Miner

List of variants in gene CHRNB1 reported as benign for congenital myasthenic syndrome 2A

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000747.3(CHRNB1):c.1217+28G>A rs7214344 0.96960
NM_000747.3(CHRNB1):c.462+74G>A rs2302767 0.68303
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly) rs17856697 0.24673
NM_000747.3(CHRNB1):c.1365+17T>C rs2302763 0.16546
NM_000747.3(CHRNB1):c.610+6T>C rs2302765 0.16463
NM_000747.3(CHRNB1):c.821-9C>T rs76001008 0.01413
NM_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr) rs76927517 0.01042
NM_000747.3(CHRNB1):c.1044+20C>T rs151303014 0.00474
NM_000747.3(CHRNB1):c.342G>A (p.Val114=) rs75019736 0.00411
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506 0.00404
NM_000747.3(CHRNB1):c.821-16C>G rs371190837 0.00193
NM_000747.3(CHRNB1):c.821-20C>T rs112895222 0.00155
NM_000747.3(CHRNB1):c.243+14A>G rs376387886 0.00138
NM_000747.3(CHRNB1):c.1044+9G>A rs143871421 0.00123
NM_000747.3(CHRNB1):c.84T>C (p.Gly28=) rs138041351 0.00102
NM_000747.3(CHRNB1):c.611-9C>T rs538827412 0.00089
NM_000747.3(CHRNB1):c.1359C>T (p.His453=) rs142053338 0.00041
NM_000747.3(CHRNB1):c.903C>T (p.Thr301=) rs117168441 0.00015
NM_000747.3(CHRNB1):c.1217+9A>G rs145242880 0.00014
NM_000747.3(CHRNB1):c.1217+10C>G rs190598236 0.00010
NM_000747.3(CHRNB1):c.243+19del rs747500029

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