List of variants in gene SMARCA4 reported as pathogenic for brain disorder

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del)	rs876657378
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys)	rs1600082188
NM_003072.5(SMARCA4):c.2475G>T (p.Trp825Cys)	rs2146360458
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)	rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)	rs281875227
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter)	rs2146417384
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe)	rs281875228
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)	rs1060499936
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr)	rs281875229
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)	rs770014321
NM_003072.5(SMARCA4):c.3355C>T (p.Arg1119Cys)	rs2090378511
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly)	rs281875230
NM_003072.5(SMARCA4):c.4171-1789C>T	rs2075455200

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