ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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
NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) rs1598548256

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