ClinVar Miner

List of variants studied for Baraitser-Winter cerebrofrontofacial syndrome by Centogene AG - the Rare Disease Company

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.860T>C (p.Val287Ala) rs2128241238
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.459G>A (p.Met153Ile) rs2143779081
NM_001614.5(ACTG1):c.655G>A (p.Val219Ile) rs2143777781

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