List of variants in gene SMARCA4 reported as pathogenic by GeneDx

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	rs2086534839
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del)	rs876657378
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs)	rs1342399494
NM_003072.5(SMARCA4):c.2287G>T (p.Glu763Ter)	rs1555774631
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.2654G>A (p.Arg885His)	rs1064794284
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)	rs1180804356
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.2953G>A (p.Glu985Lys)
NM_003072.5(SMARCA4):c.3556G>A (p.Ala1186Thr)	rs1085307556
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)	rs1600388982
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)	rs267607070
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)	rs770680174
NM_003072.5(SMARCA4):c.4526del (p.Lys1509fs)	rs1555795091
NM_003072.5(SMARCA4):c.788dup (p.Gly264fs)	rs1555754177

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