ClinVar Miner

List of variants reported as uncertain significance for Baraitser-Winter cerebrofrontofacial syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001101.5(ACTB):c.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.124-3C>T rs1189379541
NM_001101.5(ACTB):c.180C>T (p.Ser60=)
NM_001101.5(ACTB):c.27C>A (p.Val9=)
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.5(ACTB):c.44G>C (p.Gly15Ala) rs865913177
NM_001101.5(ACTB):c.609G>A (p.Thr203=)
NM_001101.5(ACTB):c.686C>T (p.Thr229Met) rs1464535596
NM_001101.5(ACTB):c.943_945del (p.Lys315del)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)

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