ClinVar Miner

List of variants in gene CHRNA2 reported as uncertain significance by Ambry Genetics

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln) rs568479156 0.00010
NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His) rs368791756 0.00004
NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala) rs746613509 0.00004
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter) rs530383631 0.00003
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) rs150254933 0.00003
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser) rs770305730 0.00002
NM_000742.4(CHRNA2):c.880G>A (p.Gly294Ser) rs1039488837 0.00002
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile) rs1064797343 0.00001
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp) rs369803320 0.00001
NM_000742.4(CHRNA2):c.1463C>T (p.Ser488Leu) rs866092045 0.00001
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739 0.00001
NM_000742.4(CHRNA2):c.433A>G (p.Ile145Val) rs1064795580 0.00001
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met) rs766076722 0.00001
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly) rs544814869 0.00001
NM_000742.4(CHRNA2):c.752T>C (p.Ile251Thr) rs1255648133 0.00001
NM_000742.4(CHRNA2):c.1069C>T (p.Pro357Ser)
NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu) rs796052301
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs) rs757376257
NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)
NM_000742.4(CHRNA2):c.1154C>G (p.Pro385Arg)
NM_000742.4(CHRNA2):c.1304C>A (p.Thr435Asn)
NM_000742.4(CHRNA2):c.1327del (p.His443fs)
NM_000742.4(CHRNA2):c.1397T>C (p.Met466Thr)
NM_000742.4(CHRNA2):c.1417G>A (p.Val473Met)
NM_000742.4(CHRNA2):c.1442G>T (p.Arg481Leu)
NM_000742.4(CHRNA2):c.1478_1499del (p.Trp493fs)
NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe) rs1586386548
NM_000742.4(CHRNA2):c.170A>C (p.Glu57Ala)
NM_000742.4(CHRNA2):c.201C>G (p.Phe67Leu) rs1563322922
NM_000742.4(CHRNA2):c.224G>A (p.Arg75His) rs762847144
NM_000742.4(CHRNA2):c.227C>G (p.Pro76Arg) rs199810678
NM_000742.4(CHRNA2):c.403del (p.Val135fs) rs777391476
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del) rs758217117
NM_000742.4(CHRNA2):c.458G>A (p.Gly153Glu) rs1812618871
NM_000742.4(CHRNA2):c.516C>A (p.His172Gln) rs1563319114
NM_000742.4(CHRNA2):c.524C>T (p.Pro175Leu)
NM_000742.4(CHRNA2):c.703A>C (p.Asn235His)
NM_000742.4(CHRNA2):c.733T>A (p.Tyr245Asn)
NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile) rs1586390822
NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)
NM_000742.4(CHRNA2):c.86C>G (p.Ala29Gly)
NM_000742.4(CHRNA2):c.881G>A (p.Gly294Asp)
NM_000742.4(CHRNA2):c.929T>A (p.Phe310Tyr)

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