List of variants reported as pathogenic for ARID2-related BAFopathy

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs)	rs2138132429
NM_152641.4(ARID2):c.156_157del (p.Arg53fs)	rs2137959875
NM_152641.4(ARID2):c.1580+1G>A	rs2138150784
NM_152641.4(ARID2):c.2458C>T (p.Gln820Ter)	rs1343039962
NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter)	rs1944306056

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