ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NM_001101.5(ACTB):c.1011C>T (p.Tyr337=) rs748194756
NM_001101.5(ACTB):c.1017G>C (p.Val339=) rs201416978
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.1089C>T (p.Asp363=) rs370848417
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.5(ACTB):c.124-3C>T rs1189379541
NM_001101.5(ACTB):c.124-4C>T rs13447397
NM_001101.5(ACTB):c.124-5C>T rs769576985
NM_001101.5(ACTB):c.124-9C>T rs377520149
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398
NM_001101.5(ACTB):c.180C>T (p.Ser60=) rs147566416
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.228C>T (p.Val76=) rs1562719788
NM_001101.5(ACTB):c.24C>G (p.Leu8=) rs151181948
NM_001101.5(ACTB):c.264C>T (p.His88=) rs574137728
NM_001101.5(ACTB):c.267C>T (p.Thr89=) rs760279394
NM_001101.5(ACTB):c.27C>A (p.Val9=) rs1240714871
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) rs587779772
NM_001101.5(ACTB):c.36C>T (p.Asn12=) rs764325153
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.44G>C (p.Gly15Ala) rs865913177
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser)
NM_001101.5(ACTB):c.582C>T (p.Thr194=) rs552927665
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.609G>A (p.Thr203=) rs148292298
NM_001101.5(ACTB):c.609G>C (p.Thr203=) rs148292298
NM_001101.5(ACTB):c.616C>T (p.Arg206Trp)
NM_001101.5(ACTB):c.616dup (p.Arg206fs)
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
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.687G>A (p.Thr229=) rs138499594
NM_001101.5(ACTB):c.732C>T (p.Asp244=) rs552269338
NM_001101.5(ACTB):c.733G>A (p.Gly245Ser)
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe)
NM_001101.5(ACTB):c.822C>A (p.Ile274=) rs377390140
NM_001101.5(ACTB):c.858C>T (p.Asp286=) rs150105166
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) rs1584261482
NM_001101.5(ACTB):c.951C>T (p.Ile317=) rs13447408
NM_001101.5(ACTB):c.985-6C>T rs182943508
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466
NM_001614.5(ACTG1):c.180C>T (p.Ser60=) rs144338558
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830
NM_001614.5(ACTG1):c.201G>C (p.Leu67=) rs782754511
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) rs201275526
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480
NM_001614.5(ACTG1):c.363+7C>G rs782205549
NM_001614.5(ACTG1):c.364-8C>T rs201748657
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.657C>T (p.Val219=) rs782248094
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345
NM_001614.5(ACTG1):c.795C>T (p.Ser265=) rs146493032
NM_001614.5(ACTG1):c.802+10G>A rs1555666580
NM_001614.5(ACTG1):c.803-4C>T rs782608976
NM_001614.5(ACTG1):c.803-6C>T rs199600452
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.877C>T (p.Leu293=) rs143205514
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869
NM_001614.5(ACTG1):c.984+7C>T rs369691985
NM_001614.5(ACTG1):c.985-5T>C rs370546734
NM_001614.5(ACTG1):c.985-7dup rs782289893

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