ClinVar Miner

List of variants studied for Baraitser-Winter cerebrofrontofacial syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_001101.4(ACTB):c.1011C>T (p.Tyr337=) rs748194756
NM_001101.4(ACTB):c.1023C>T (p.Ile341=) rs58704474
NM_001101.4(ACTB):c.1044G>A (p.Ser348=) rs13447409
NM_001101.4(ACTB):c.1107C>T (p.Ile369=) rs71531321
NM_001101.4(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.4(ACTB):c.124-3C>T
NM_001101.4(ACTB):c.124-4C>T rs13447397
NM_001101.4(ACTB):c.168C>T (p.Asp56=) rs13447398
NM_001101.4(ACTB):c.198C>T (p.Thr66=) rs750565033
NM_001101.4(ACTB):c.19G>A (p.Ala7Thr)
NM_001101.4(ACTB):c.264C>T (p.His88=) rs574137728
NM_001101.4(ACTB):c.420A>G (p.Leu140=) rs13447405
NM_001101.4(ACTB):c.426G>T (p.Leu142=) rs79074016
NM_001101.4(ACTB):c.44G>C (p.Gly15Ala) rs865913177
NM_001101.4(ACTB):c.474G>A (p.Gly158=) rs141472083
NM_001101.4(ACTB):c.669C>T (p.Phe223=) rs369943480
NM_001101.4(ACTB):c.686C>T (p.Thr229Met)
NM_001101.4(ACTB):c.882C>T (p.Tyr294=) rs774758801
NM_001101.4(ACTB):c.903C>T (p.Gly301=) rs13447407
NM_001101.4(ACTB):c.942G>A (p.Gln314=) rs11546939
NM_001101.4(ACTB):c.985-6C>T rs182943508
NM_001614.3(ACTG1):c.39C>T (p.Gly13=) rs146865914
NM_001614.3(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.3(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.3(ACTG1):c.985-5T>C rs370546734
NM_001614.4(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.4(ACTG1):c.364-8C>T rs201748657
NM_001614.4(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.4(ACTG1):c.802+10G>A rs1555666580
NM_001614.4(ACTG1):c.803-4C>T rs782608976
NM_001614.4(ACTG1):c.985-5dup rs782289893

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