ClinVar Miner

List of variants in gene SMARCA2 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Total variants: 13
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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.174G>A (p.Pro58=) rs10964470 0.04780
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.3229T>A (p.Ser1077Thr) rs1388950613 0.00001
NM_003070.5(SMARCA2):c.3384T>C (p.Ala1128=) rs1349482784 0.00001
NM_003070.5(SMARCA2):c.2762G>T (p.Gly921Val) rs1196279821
NM_003070.5(SMARCA2):c.3192G>A (p.Ala1064=) rs770885495
NM_003070.5(SMARCA2):c.4479C>G (p.Ile1493Met) rs111380592
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757

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