List of variants in gene SMARCB1 reported as likely pathogenic for Coffin-Siris syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg)	rs1555881567
NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del)	rs2146042583
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)	rs797045989
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)	rs1568963037
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly)	rs886039520
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys)	rs886039520
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)	rs398122368
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp)	rs1568963596
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)	rs1057517825
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln)	rs1555877287
NM_003073.5(SMARCB1):c.796-1G>A	rs2146026614
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu)	rs2030318562
NM_003073.5(SMARCB1):c.986+2T>C	rs2030331202

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