ClinVar Miner

List of variants studied for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (5):
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Total variants: 82
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HGVS dbSNP
NM_001101.5(ACTB):c.1011C>T (p.Tyr337=) rs748194756
NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe) rs1554329113
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.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys) rs368352689
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321
NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter) rs1554329068
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.5(ACTB):c.123+1G>A rs794729643
NM_001101.5(ACTB):c.124-3C>T rs1189379541
NM_001101.5(ACTB):c.124-4C>T rs13447397
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398
NM_001101.5(ACTB):c.180C>T (p.Ser60=)
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) rs281875332
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001101.5(ACTB):c.198C>T (p.Thr66=) rs750565033
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) rs587779769
NM_001101.5(ACTB):c.217C>T (p.His73Tyr) rs786205585
NM_001101.5(ACTB):c.219C>G (p.His73Gln) rs1166509821
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) rs587779770
NM_001101.5(ACTB):c.224T>C (p.Ile75Thr) rs587779771
NM_001101.5(ACTB):c.264C>T (p.His88=) rs574137728
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001101.5(ACTB):c.27C>A (p.Val9=)
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.5(ACTB):c.329del (p.Leu110fs) rs1554329523
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) rs397515470
NM_001101.5(ACTB):c.34A>C (p.Asn12His) rs281875331
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) rs281875331
NM_001101.5(ACTB):c.350A>T (p.Glu117Val) rs1554329516
NM_001101.5(ACTB):c.351G>T (p.Glu117Asp) rs765265404
NM_001101.5(ACTB):c.356T>C (p.Met119Thr) rs587779773
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) rs587779774
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.446C>T (p.Thr149Ile) rs587779775
NM_001101.5(ACTB):c.44G>C (p.Gly15Ala) rs865913177
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083
NM_001101.5(ACTB):c.527T>C (p.Leu176Pro) rs1554329331
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.586C>A (p.Arg196Ser) rs281875333
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.609G>A (p.Thr203=)
NM_001101.5(ACTB):c.611C>G (p.Ala204Gly) rs587779776
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) rs587780273
NM_001101.5(ACTB):c.669C>T (p.Phe223=) rs369943480
NM_001101.5(ACTB):c.686C>T (p.Thr229Met) rs1464535596
NM_001101.5(ACTB):c.802G>C (p.Gly268Arg) rs1554329269
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly) rs886041270
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) rs774758801
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.943_945del (p.Lys315del)
NM_001101.5(ACTB):c.985-6C>T rs182943508
NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln)
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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