ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001101.5(ACTB):c.1023C>T (p.Ile341=) rs58704474
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) rs13447409
NM_001101.5(ACTB):c.124-4C>T rs13447397
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016
NM_001101.5(ACTB):c.903C>T (p.Gly301=) rs13447407
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939
NM_001101.5(ACTB):c.985-6C>T rs182943508
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.985-5T>C rs370546734

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