List of variants in gene ARID2 studied for ARID2-related BAFopathy

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs)	rs2138132429
NM_152641.4(ARID2):c.1284_1288del (p.Met428fs)	rs2138132620
NM_152641.4(ARID2):c.1580+1G>A	rs2138150784
NM_152641.4(ARID2):c.2458C>T (p.Gln820Ter)	rs1343039962
NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser)	rs2138166428
NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter)	rs1944306056
NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)	rs1943228378

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