List of variants studied for ACTB-related BAFopathy

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)	rs2128241170
NM_001101.5(ACTB):c.118C>T (p.His40Tyr)	rs1373863123
NM_001101.5(ACTB):c.20C>T (p.Ala7Val)	rs11546916
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)	rs104894003
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu)	rs281875334
NM_001101.5(ACTB):c.625G>A (p.Val209Met)	rs587779777
NM_001101.5(ACTB):c.629G>A (p.Arg210His)	rs1064793444
NM_001101.5(ACTB):c.70G>A (p.Asp24Asn)	rs2128241451
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly)	rs886041270

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