ClinVar Miner

List of variants in gene CHRNA4 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_000744.7(CHRNA4):c.1758+14A>G rs3827020 0.19437
NM_000744.7(CHRNA4):c.1758+11C>T rs45442394 0.04350
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860 0.00222
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202 0.00208
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857 0.00200
NM_000744.7(CHRNA4):c.1758+16G>A rs113109615 0.00153
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_000744.7(CHRNA4):c.77-4G>A rs201123897 0.00141
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730 0.00122
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=) rs61737042 0.00082
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652 0.00080
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225 0.00070
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348 0.00066
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056 0.00045
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=) rs142646795 0.00027
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283 0.00021
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg) rs113794453 0.00011
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=) rs121912253 0.00009
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442 0.00008
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=) rs137860047 0.00007
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498 0.00006
NM_000744.7(CHRNA4):c.1327C>G (p.His443Asp) rs796052319 0.00003
NM_000744.7(CHRNA4):c.1685C>T (p.Pro562Leu) rs200750362 0.00002
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658 0.00001
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282 0.00001
NM_000744.7(CHRNA4):c.1842G>A (p.Thr614=) rs727503871 0.00001
NM_000744.7(CHRNA4):c.412C>T (p.Leu138=) rs372063405 0.00001
NM_000744.7(CHRNA4):c.758C>T (p.Pro253Leu) rs747083728 0.00001
NM_000744.7(CHRNA4):c.868C>T (p.Leu290=) rs762952445 0.00001
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.7(CHRNA4):c.1517C>A (p.Ala506Asp) rs1317311176
NM_000744.7(CHRNA4):c.1653C>A (p.Thr551=) rs886043995
NM_000744.7(CHRNA4):c.466A>G (p.Ile156Val) rs754895704
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.7(CHRNA4):c.904dup (p.Val302fs) rs1568809897

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