ClinVar Miner

List of variants in gene SMARCA2 reported as likely pathogenic

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001289396.1:c.[3495G>C(;)3917G>A]
NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys)
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) rs1586657848
NM_003070.5(SMARCA2):c.1529A>G (p.Asp510Gly) rs1820557069
NM_003070.5(SMARCA2):c.1538G>A (p.Gly513Asp) rs1586660338
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val) rs1586660338
NM_003070.5(SMARCA2):c.1540T>C (p.Tyr514His) rs1554619354
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) rs1820558146
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.1585C>G (p.Leu529Val) rs1586660389
NM_003070.5(SMARCA2):c.1600G>A (p.Asp534Asn) rs863224922
NM_003070.5(SMARCA2):c.1600G>C (p.Asp534His) rs863224922
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr) rs863224922
NM_003070.5(SMARCA2):c.1601A>G (p.Asp534Gly) rs2130363709
NM_003070.5(SMARCA2):c.1874C>T (p.Pro625Leu)
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg) rs1821581008
NM_003070.5(SMARCA2):c.2326T>C (p.Tyr776His) rs1554623111
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg) rs1821584135
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.2431C>G (p.Arg811Gly) rs2130474729
NM_003070.5(SMARCA2):c.2551G>A (p.Asp851Asn)
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) rs886041045
NM_003070.5(SMARCA2):c.2639C>A (p.Thr880Asn) rs2130486498
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003070.5(SMARCA2):c.2736G>T (p.Trp912Cys)
NM_003070.5(SMARCA2):c.2737T>C (p.Phe913Leu) rs1554623885
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) rs1586692481
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys) rs1586692548
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu) rs1586692551
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)
NM_003070.5(SMARCA2):c.2834T>G (p.Phe945Cys) rs1554624095
NM_003070.5(SMARCA2):c.2870A>G (p.Gln957Arg)
NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg)
NM_003070.5(SMARCA2):c.3021C>G (p.Asn1007Lys) rs886041042
NM_003070.5(SMARCA2):c.3101G>A (p.Gly1034Asp)
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.3441C>A (p.Asp1147Glu)
NM_003070.5(SMARCA2):c.3456G>C (p.Gln1152His) rs1131691369
NM_003070.5(SMARCA2):c.3457-2A>T rs1823192606
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg) rs863224921
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3490G>A (p.Gly1164Arg) rs2130599584
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys) rs797045976
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro) rs1586721515
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro) rs1823198138
NM_003070.5(SMARCA2):c.3602C>A (p.Ala1201Glu) rs281875189
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3612T>G (p.Phe1204Leu) rs1131691978
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys) rs1823200345
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003070.5(SMARCA2):c.3849G>C (p.Trp1283Cys) rs1057518558
NM_003070.5(SMARCA2):c.3849G>T (p.Trp1283Cys) rs1057518558
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met) rs2130626814
NM_003070.5(SMARCA2):c.473del (p.Pro158fs) rs1586635371
NM_003070.5(SMARCA2):c.787T>A (p.Ser263Thr) rs1819528679

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