ClinVar Miner

List of variants in gene SMARCA2 reported by OMIM

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NG_032162.2:g.118997_171770del
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) rs1586657848
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys) rs1586660370
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) rs1586660381
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) rs281875185
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) rs1586692481
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu) rs1586692551
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) rs281875190
NM_003070.5(SMARCA2):c.3395G>A (p.Gly1132Asp) rs387907194
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) rs281875240
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) rs281875187
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) rs281875239
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238

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