ClinVar Miner

List of variants in gene ACTG1 studied for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.118C>T (p.His40Tyr) rs1057518673
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.364-8C>T rs201748657
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) rs587780275
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) rs281875327
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) rs182162229
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu)
NM_001614.5(ACTG1):c.802+10G>A rs1555666580
NM_001614.5(ACTG1):c.803-4C>T rs782608976
NM_001614.5(ACTG1):c.985-5T>C rs370546734
NM_001614.5(ACTG1):c.985-7dup rs782289893

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