ClinVar Miner

List of variants in gene CHRNB2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933 0.00133
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) rs149921259 0.00039
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618 0.00010
NM_000748.3(CHRNB2):c.210+10G>A rs200196583 0.00005
NM_000748.3(CHRNB2):c.1404dup (p.Val469fs)
NM_000748.3(CHRNB2):c.539G>T (p.Arg180Leu)

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