ClinVar Miner

List of variants in gene SMARCA2 reported as likely pathogenic for not provided

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.1540T>C (p.Tyr514His) rs1554619354
NM_003070.5(SMARCA2):c.1600G>C (p.Asp534His) rs863224922
NM_003070.5(SMARCA2):c.1601A>G (p.Asp534Gly) rs2130363709
NM_003070.5(SMARCA2):c.2551G>A (p.Asp851Asn)
NM_003070.5(SMARCA2):c.2639C>A (p.Thr880Asn) rs2130486498
NM_003070.5(SMARCA2):c.2834T>G (p.Phe945Cys) rs1554624095
NM_003070.5(SMARCA2):c.3021C>G (p.Asn1007Lys) rs886041042
NM_003070.5(SMARCA2):c.3236T>C (p.Met1079Thr) rs1554626829
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu) rs281875197
NM_003070.5(SMARCA2):c.3384TGG[3] (p.Gly1130_Leu1131insGly)
NM_003070.5(SMARCA2):c.3456G>C (p.Gln1152His) rs1131691369
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3490G>A (p.Gly1164Arg) rs2130599584
NM_003070.5(SMARCA2):c.3602C>A (p.Ala1201Glu) rs281875189
NM_003070.5(SMARCA2):c.3612T>G (p.Phe1204Leu) rs1131691978
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003070.5(SMARCA2):c.3849G>T (p.Trp1283Cys) rs1057518558
NM_003070.5(SMARCA2):c.473del (p.Pro158fs) rs1586635371

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