ClinVar Miner

List of variants in gene CHRNA2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.294+100C>T rs116459673 0.00407
NM_000742.4(CHRNA2):c.294+116T>C rs185419685 0.00407
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159 0.00150
NM_000742.4(CHRNA2):c.*1849A>G rs531828656 0.00130
NM_000742.4(CHRNA2):c.294+28G>A rs376078367 0.00072
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=) rs149934219 0.00018
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950 0.00015
NM_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn) rs141072985 0.00006
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816 0.00005
NM_000742.4(CHRNA2):c.1002C>T (p.Phe334=) rs780941610 0.00003
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln) rs374512926 0.00002
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile) rs1064797343 0.00001
NM_000742.4(CHRNA2):c.1059C>T (p.His353=) rs748482434 0.00001
NM_000742.4(CHRNA2):c.169G>A (p.Glu57Lys) rs139552324 0.00001
NM_000742.4(CHRNA2):c.568T>C (p.Phe190Leu) rs752751788 0.00001
NM_000742.4(CHRNA2):c.735C>T (p.Tyr245=) rs775595773 0.00001
NM_000742.4(CHRNA2):c.787C>T (p.Arg263Trp) rs376807512 0.00001
NC_000008.11:g.27479265_27479274del rs1349833594
NM_000742.3(CHRNA2):c.-581_-578delTGTA rs1554517018
NM_000742.4(CHRNA2):c.-562GA[8] rs150699126
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp) rs1018084204
NM_000742.4(CHRNA2):c.1293dup (p.Ser432fs) rs751842443
NM_000742.4(CHRNA2):c.1294T>G (p.Ser432Ala) rs2132650731
NM_000742.4(CHRNA2):c.1299_1311dup (p.Ser438fs) rs2132650645
NM_000742.4(CHRNA2):c.1381C>T (p.Leu461=)
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.4(CHRNA2):c.225C>T (p.Arg75=) rs371737919
NM_000742.4(CHRNA2):c.422G>A (p.Trp141Ter)
NM_000742.4(CHRNA2):c.577G>T (p.Asp193Tyr)
NM_000742.4(CHRNA2):c.718T>C (p.Tyr240His)
NM_000742.4(CHRNA2):c.815T>A (p.Leu272His)

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