List of variants in gene SMARCA4 reported as uncertain significance for Coffin-Siris syndrome

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.*299C>T	rs772399601	0.00056
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=)	rs764939990	0.00004
NM_003072.5(SMARCA4):c.*346G>A	rs754087248	0.00001
NM_003072.5(SMARCA4):c.2565C>T (p.Val855=)	rs775610559	0.00001
NM_003072.5(SMARCA4):c.3775-12A>G	rs770956288	0.00001
NM_003072.5(SMARCA4):c.4110C>T (p.Gly1370=)	rs780735376	0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)	rs886054155	0.00001
NM_001128849.2(SMARCA4):c.*464G>T	rs886054156
NM_003072.5(SMARCA4):c.-32+11C>T	rs886054150
NM_003072.5(SMARCA4):c.1761+6C>T	rs886054152
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn)	rs886054153
NM_003072.5(SMARCA4):c.2616+14G>T	rs886054154
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His)	rs1568422604
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu)	rs886054151

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