ClinVar Miner

List of variants in gene CHRNB1 reported as pathogenic for not provided

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter) rs766823872 0.00002
NM_000747.3(CHRNB1):c.1A>G (p.Met1Val) rs1064795835
NM_000747.3(CHRNB1):c.295_299delinsACG (p.Asp99fs) rs1131691957
NM_000747.3(CHRNB1):c.645_646del (p.Arg216fs) rs1555552004
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter) rs1908992563
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met) rs137852810
NM_000747.3(CHRNB1):c.919del (p.Ile307fs) rs886041490

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