ClinVar Miner

List of variants in gene CHRNB1 studied for congenital myasthenic syndrome 2C

Included ClinVar conditions (2):
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Total variants: 8
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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.1365+5G>C rs1051316024 0.00003
GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0
NC_000017.10:g.(7352108_7357615)_(7357840_7358602)del
NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del)
NM_000747.3(CHRNB1):c.442C>T (p.Arg148Cys)
NM_000747.3(CHRNB1):c.821_1044del p.Gly274Aspfs

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