List of variants in gene SMARCA4 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)	rs138097741	0.00012
NM_001387283.1(SMARCA4):c.4211T>G (p.Val1404Gly)	rs200469979	0.00010
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val)	rs569715577	0.00003
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)	rs1064795842	0.00003
NM_001387283.1(SMARCA4):c.4217G>A (p.Arg1406His)	rs779801126	0.00001
NM_003072.5(SMARCA4):c.1787C>T (p.Thr596Met)	rs779952581	0.00001
NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val)	rs780497718	0.00001
NM_003072.5(SMARCA4):c.2340G>C (p.Glu780Asp)	rs2146278687
NM_003072.5(SMARCA4):c.3140A>T (p.Asn1047Ile)	rs2146497942
NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln)	rs1555783190
NM_003072.5(SMARCA4):c.3626G>A (p.Ser1209Asn)	rs145476154
NM_003072.5(SMARCA4):c.3668A>G (p.Asn1223Ser)	rs2146652117
NM_003072.5(SMARCA4):c.3826C>G (p.Pro1276Ala)	rs1600393785
NM_003072.5(SMARCA4):c.3990C>G (p.Asn1330Lys)	rs2146697311
NM_003072.5(SMARCA4):c.610G>T (p.Val204Leu)
NM_003072.5(SMARCA4):c.696T>C (p.Pro232=)	rs573767517
NM_003072.5(SMARCA4):c.722_733dup (p.229GP[10])	rs568390760

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