ClinVar Miner

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

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
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.683A>C (p.Gln228Pro) rs62534884 0.03925
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.4218G>A (p.Val1406=) rs558384854
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[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

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