List of variants in gene SMARCA4 reported as pathogenic by OMIM

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del)	rs876657378
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)	rs281875226
NM_003072.5(SMARCA4):c.2617-3C>G	rs587777463
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)	rs281875227
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe)	rs281875228
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr)	rs281875229
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp)	rs587777464
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly)	rs281875230
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter)	rs587777460
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)	rs267607070
NM_003072.5(SMARCA4):c.4170+1G>A	rs587777461
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter)	rs587777462

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