List of variants in gene SMARCA2 studied for Intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn)	rs1057518990
NM_003070.5(SMARCA2):c.1458C>G (p.Asn486Lys)	rs1586657809
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)	rs1586657848
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val)	rs1586660338
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.2184+5T>C
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.2786A>T (p.Glu929Val)	rs1586692481
NM_003070.5(SMARCA2):c.2795T>C (p.Ile932Thr)	rs1586692509
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.3040A>G (p.Lys1014Glu)	rs1586701712
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)	rs281875189
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys)	rs1823200345
NM_003070.5(SMARCA2):c.3754del (p.Leu1252fs)	rs1823357335

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