List of variants in gene ACTA2, FAS studied for autoimmune disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_001141945.3(ACTA2):c.-24+733T>C	rs1800682	0.54268
NM_001141945.3(ACTA2):c.-24+157C>T	rs2274355	0.03855
NM_000043.6(FAS):c.-34A>G	rs5030766	0.02841
NM_001141945.3(ACTA2):c.-24+357C>T	rs9658677	0.00433
NM_001141945.3(ACTA2):c.-24+409G>A	rs56220100	0.00346
NM_000043.6(FAS):c.-10C>A	rs200181814	0.00019
NM_000043.6(FAS):c.30+12C>T	rs558072404	0.00001
NM_001141945.3(ACTA2):c.-24+350G>A	rs938458478	0.00001
NC_000010.10:g.(?_90749963)_(90750683_?)del
NM_000043.6(FAS):c.15G>C (p.Trp5Cys)
NM_000043.6(FAS):c.20T>C (p.Leu7Pro)	rs2133384423
NM_000043.6(FAS):c.27T>C (p.Pro9=)
NM_000043.6(FAS):c.30+14_30+18dup
NM_000043.6(FAS):c.30+19G>A	rs202165529
NM_000043.6(FAS):c.30+19G>T	rs202165529
NM_000043.6(FAS):c.30+20G>A
NM_000043.6(FAS):c.30+2T>C
NM_000043.6(FAS):c.30+6C>T	rs1847139427
NM_000043.6(FAS):c.4C>T (p.Leu2=)
NM_001141945.3(ACTA2):c.-24+236C>T	rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T	rs886047456
NM_001141945.3(ACTA2):c.-24+414_-24+415del	rs553556054

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