ClinVar Miner

List of variants in gene CHRNB2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618 0.00010
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp) rs77710036 0.00005
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396 0.00001
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His) rs769249583 0.00001
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu) rs202135710 0.00001
NM_000748.3(CHRNB2):c.366-3C>T rs1382302930 0.00001
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg) rs201004255 0.00001
NM_000748.3(CHRNB2):c.1126C>G (p.Leu376Val)
NM_000748.3(CHRNB2):c.1221T>G (p.Pro407=) rs1571023080
NM_000748.3(CHRNB2):c.1323G>C (p.Glu441Asp) rs1696185130
NM_000748.3(CHRNB2):c.224A>C (p.Gln75Pro)
NM_000748.3(CHRNB2):c.255G>A (p.Gln85=) rs2149366262
NM_000748.3(CHRNB2):c.64+6G>C rs1553203865
NM_000748.3(CHRNB2):c.96G>A (p.Leu32=) rs1571020266

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