ClinVar Miner

List of variants in gene SMARCA2 studied for not specified

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_003070.5(SMARCA2):c.-5G>A rs10964468 0.13219
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=) rs13288443 0.12157
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=) rs10964471 0.08917
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro) rs62534884 0.03925
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978 0.01166
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00974
NM_003070.5(SMARCA2):c.513C>A (p.Pro171=) rs148002538 0.00152
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=) rs202136878 0.00036
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=) rs981565985 0.00008
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003070.5(SMARCA2):c.1174-10T>C rs752815708 0.00001
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr) rs1388950613 0.00001
NM_003070.5(SMARCA2):c.3384T>C (p.Ala1128=) rs1349482784 0.00001
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=) rs759832527 0.00001
NM_003070.5(SMARCA2):c.4231C>T (p.Gln1411Ter) rs752254761 0.00001
NM_003070.5(SMARCA2):c.1296G>C (p.Leu432=) rs764443050
NM_003070.5(SMARCA2):c.1534G>A (p.Glu512Lys) rs1820557172
NM_003070.5(SMARCA2):c.1692+3G>C
NM_003070.5(SMARCA2):c.2392T>G (p.Ser798Ala)
NM_003070.5(SMARCA2):c.2762G>T (p.Gly921Val) rs1196279821
NM_003070.5(SMARCA2):c.2844G>T (p.Arg948Ser)
NM_003070.5(SMARCA2):c.3192G>A (p.Ala1064=) rs770885495
NM_003070.5(SMARCA2):c.3385G>C (p.Gly1129Arg) rs797045975
NM_003070.5(SMARCA2):c.4218G>A (p.Val1406=) rs558384854
NM_003070.5(SMARCA2):c.4344T>G (p.Asp1448Glu)
NM_003070.5(SMARCA2):c.4479C>G (p.Ile1493Met) rs111380592
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[5] (p.Gln231_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003070.5(SMARCA2):c.707_715dup (p.Gln238_Pro239insGlnGlnGln)
NM_003070.5(SMARCA2):c.795G>A (p.Pro265=) rs1554616965

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