ClinVar Miner

List of variants in gene SMARCA2 reported as uncertain significance by Ambry Genetics

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met) rs146164750 0.00003
NM_003070.5(SMARCA2):c.1201C>T (p.Arg401Cys) rs1161689441
NM_003070.5(SMARCA2):c.1265C>G (p.Thr422Ser)
NM_003070.5(SMARCA2):c.1586T>G (p.Leu529Arg) rs1554619357
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)
NM_003070.5(SMARCA2):c.2332A>C (p.Ile778Leu)
NM_003070.5(SMARCA2):c.2639C>A (p.Thr880Asn) rs2130486498
NM_003070.5(SMARCA2):c.3094C>T (p.His1032Tyr)
NM_003070.5(SMARCA2):c.3412G>C (p.Ala1138Pro) rs1822943756
NM_003070.5(SMARCA2):c.3706G>A (p.Asp1236Asn)
NM_003070.5(SMARCA2):c.3796C>G (p.Arg1266Gly) rs768875248
NM_003070.5(SMARCA2):c.4200-2A>G
NM_003070.5(SMARCA2):c.4486C>A (p.Gln1496Lys) rs1554645104
NM_003070.5(SMARCA2):c.4527G>C (p.Glu1509Asp)
NM_003070.5(SMARCA2):c.4685A>T (p.Lys1562Ile)
NM_003070.5(SMARCA2):c.4687G>A (p.Ala1563Thr)
NM_003070.5(SMARCA2):c.4688C>T (p.Ala1563Val)
NM_003070.5(SMARCA2):c.500C>G (p.Pro167Arg)
NM_003070.5(SMARCA2):c.598G>A (p.Glu200Lys)
NM_003070.5(SMARCA2):c.799C>T (p.Pro267Ser)
NM_003070.5(SMARCA2):c.820A>G (p.Thr274Ala)
NM_003070.5(SMARCA2):c.821C>A (p.Thr274Asn)
NM_003070.5(SMARCA2):c.850_873del (p.Gly284_Pro291del)
NM_003070.5(SMARCA2):c.871C>T (p.Pro291Ser)
NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) rs753868549
NM_003070.5(SMARCA2):c.890C>T (p.Pro297Leu)
NM_003070.5(SMARCA2):c.904G>A (p.Val302Met)

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