ClinVar Miner

List of variants studied for Baraitser-Winter syndrome 1 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.269_271del (p.Phe90del)	rs1554329546
NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr)	rs1784841309
NM_001101.5(ACTB):c.625G>A (p.Val209Met)	rs587779777
NM_001101.5(ACTB):c.628C>T (p.Arg210Cys)	rs1584261979

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