List of variants in gene SMARCA4 reported as likely pathogenic by Ambry Genetics

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.102_114dup (p.Ala39fs)
NM_003072.5(SMARCA4):c.222+1G>T
NM_003072.5(SMARCA4):c.2275-1G>C
NM_003072.5(SMARCA4):c.2438+1G>C
NM_003072.5(SMARCA4):c.2438+1G>T	rs1555774786
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met)	rs2089620653
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)	rs2146416371
NM_003072.5(SMARCA4):c.2681C>T (p.Thr894Met)	rs2089893983
NM_003072.5(SMARCA4):c.2859+1G>C	rs797044856
NM_003072.5(SMARCA4):c.3546+1G>A	rs2146603666
NM_003072.5(SMARCA4):c.355+1G>A
NM_003072.5(SMARCA4):c.355+2T>G	rs1599942345
NM_003072.5(SMARCA4):c.3774+2T>A	rs1475054297
NM_003072.5(SMARCA4):c.3951+2T>C	rs1555785056
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter)	rs878854224

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