List of variants in gene SMARCA4 reported as likely pathogenic by Center for Molecular Medicine, Children’s Hospital of Fudan University

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.1429A>G (p.Asn477Asp)	rs2086880392
NM_003072.5(SMARCA4):c.1615C>G (p.Arg539Gly)	rs2087029320
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)	rs1555778797
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)	rs1085307769
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala)	rs2146600868
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)	rs2146654092
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His)	rs1555785361

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