ClinVar Miner

List of variants reported as likely benign for Baraitser-Winter syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001101.5(ACTB):c.687G>A (p.Thr229=) rs138499594 0.00083
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_001101.5(ACTB):c.984+15T>C rs372551192 0.00039
NM_001101.5(ACTB):c.645G>A (p.Lys215=) rs145017784 0.00026
NM_001101.5(ACTB):c.364-4A>G rs763065691 0.00018
NM_001101.5(ACTB):c.1089C>T (p.Asp363=) rs370848417 0.00016
NM_001101.5(ACTB):c.315G>C (p.Leu105=) rs139795454 0.00016
NM_001101.5(ACTB):c.124-16G>A rs13447396 0.00015
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00012
NM_001101.5(ACTB):c.1011C>T (p.Tyr337=) rs748194756 0.00009
NM_001101.5(ACTB):c.192C>T (p.Ile64=) rs745456857 0.00009
NM_001101.5(ACTB):c.280C>T (p.Leu94=) rs145281194 0.00009
NM_001101.5(ACTB):c.624C>T (p.Ile208=) rs144865943 0.00009
NM_001101.5(ACTB):c.984+16G>C rs767166581 0.00009
NM_001101.5(ACTB):c.582C>T (p.Thr194=) rs552927665 0.00006
NM_001101.5(ACTB):c.825C>T (p.His275=) rs373362107 0.00006
NM_001101.5(ACTB):c.93C>T (p.Phe31=) rs748892906 0.00005
NM_001101.5(ACTB):c.180C>T (p.Ser60=) rs147566416 0.00004
NM_001101.5(ACTB):c.363+20T>G rs761362868 0.00004
NM_001101.5(ACTB):c.36C>T (p.Asn12=) rs764325153 0.00004
NM_001101.5(ACTB):c.732C>T (p.Asp244=) rs552269338 0.00004
NM_001101.5(ACTB):c.930C>T (p.Ala310=) rs34792388 0.00004
NM_001101.5(ACTB):c.1014C>T (p.Ser338=) rs1064790 0.00003
NM_001101.5(ACTB):c.198C>T (p.Thr66=) rs750565033 0.00003
NM_001101.5(ACTB):c.24C>G (p.Leu8=) rs151181948 0.00003
NM_001101.5(ACTB):c.267C>T (p.Thr89=) rs760279394 0.00003
NM_001101.5(ACTB):c.30C>G (p.Val10=) rs768066226 0.00003
NM_001101.5(ACTB):c.324C>T (p.Ala108=) rs746032511 0.00003
NM_001101.5(ACTB):c.363+15A>C rs772907450 0.00003
NM_001101.5(ACTB):c.429C>T (p.Tyr143=) rs375215955 0.00003
NM_001101.5(ACTB):c.579C>A (p.Leu193=) rs759523049 0.00003
NM_001101.5(ACTB):c.669C>T (p.Phe223=) rs369943480 0.00003
NM_001101.5(ACTB):c.720C>T (p.Tyr240=) rs145793213 0.00003
NM_001101.5(ACTB):c.756T>C (p.Asn252=) rs774251900 0.00003
NM_001101.5(ACTB):c.802+20C>T rs372973178 0.00003
NM_001101.5(ACTB):c.858C>T (p.Asp286=) rs150105166 0.00003
NM_001101.5(ACTB):c.1026C>T (p.Gly342=) rs780969261 0.00002
NM_001101.5(ACTB):c.111C>T (p.Arg37=) rs757736707 0.00002
NM_001101.5(ACTB):c.124-13C>T rs755158952 0.00002
NM_001101.5(ACTB):c.124-5C>T rs769576985 0.00002
NM_001101.5(ACTB):c.312G>A (p.Leu104=) rs749687095 0.00002
NM_001101.5(ACTB):c.364-13C>T rs750756712 0.00002
NM_001101.5(ACTB):c.364-9G>C rs371859807 0.00002
NM_001101.5(ACTB):c.465C>T (p.Ser155=) rs760547214 0.00002
NM_001101.5(ACTB):c.654C>T (p.Tyr218=) rs781745429 0.00002
NM_001101.5(ACTB):c.657C>T (p.Val219=) rs143046775 0.00002
NM_001101.5(ACTB):c.738G>A (p.Gln246=) rs148969043 0.00002
NM_001101.5(ACTB):c.864C>T (p.Asp288=) rs766044090 0.00002
NM_001101.5(ACTB):c.1095C>T (p.Ser365=) rs760936273 0.00001
NM_001101.5(ACTB):c.123+18G>A rs551932499 0.00001
NM_001101.5(ACTB):c.124-9C>T rs377520149 0.00001
NM_001101.5(ACTB):c.150G>A (p.Lys50=) rs1784833012 0.00001
NM_001101.5(ACTB):c.210C>T (p.Pro70=) rs758427319 0.00001
NM_001101.5(ACTB):c.228C>A (p.Val76=) rs1562719788 0.00001
NM_001101.5(ACTB):c.255C>T (p.Ile85=) rs371726724 0.00001
NM_001101.5(ACTB):c.264C>T (p.His88=) rs574137728 0.00001
NM_001101.5(ACTB):c.270C>T (p.Phe90=) rs1446932164 0.00001
NM_001101.5(ACTB):c.364-8C>T rs751843940 0.00001
NM_001101.5(ACTB):c.378C>T (p.Thr126=) rs1197579915 0.00001
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083 0.00001
NM_001101.5(ACTB):c.492C>T (p.Pro164=) rs1784814781 0.00001
NM_001101.5(ACTB):c.526C>T (p.Leu176=) rs781543876 0.00001
NM_001101.5(ACTB):c.588C>T (p.Arg196=) rs1184848861 0.00001
NM_001101.5(ACTB):c.63C>T (p.Phe21=) rs370972197 0.00001
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00001
NM_001101.5(ACTB):c.663G>A (p.Leu221=) rs1187201047 0.00001
NM_001101.5(ACTB):c.780A>T (p.Ala260=) rs1024438680 0.00001
NM_001101.5(ACTB):c.803-14C>T rs1284346916 0.00001
NM_001101.5(ACTB):c.803-18C>T rs370628413 0.00001
NM_001101.5(ACTB):c.804C>T (p.Gly268=) rs770089307 0.00001
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) rs774758801 0.00001
NM_001101.5(ACTB):c.985-10C>T rs367881583 0.00001
NM_001101.5(ACTB):c.-6-15C>G rs375195937
NM_001101.5(ACTB):c.102C>T (p.Ile34=)
NM_001101.5(ACTB):c.1047G>A (p.Leu349=)
NM_001101.5(ACTB):c.1053C>T (p.Thr351=) rs1784797975
NM_001101.5(ACTB):c.1056C>T (p.Phe352=)
NM_001101.5(ACTB):c.1059G>A (p.Gln353=) rs2128241176
NM_001101.5(ACTB):c.1074C>T (p.Ser358=)
NM_001101.5(ACTB):c.1101C>G (p.Pro367=)
NM_001101.5(ACTB):c.1122C>T (p.Cys374=) rs2128241151
NM_001101.5(ACTB):c.123+10C>T
NM_001101.5(ACTB):c.123+17G>A
NM_001101.5(ACTB):c.123+17G>T
NM_001101.5(ACTB):c.124-10T>C
NM_001101.5(ACTB):c.124-11T>G rs754033291
NM_001101.5(ACTB):c.124-14C>G rs565900219
NM_001101.5(ACTB):c.124-14C>T
NM_001101.5(ACTB):c.124-18T>C
NM_001101.5(ACTB):c.124-19_124-17del rs768341964
NM_001101.5(ACTB):c.124-20T>G
NM_001101.5(ACTB):c.124-6T>G
NM_001101.5(ACTB):c.124-8C>T
NM_001101.5(ACTB):c.124-9C>G
NM_001101.5(ACTB):c.12T>C (p.Asp4=)
NM_001101.5(ACTB):c.135G>T (p.Val45=)
NM_001101.5(ACTB):c.156C>G (p.Ser52=)
NM_001101.5(ACTB):c.156C>T (p.Ser52=)
NM_001101.5(ACTB):c.15C>T (p.Ile5=)
NM_001101.5(ACTB):c.177G>A (p.Gln59=)
NM_001101.5(ACTB):c.195C>T (p.Leu65=) rs1431725288
NM_001101.5(ACTB):c.199C>T (p.Leu67=)
NM_001101.5(ACTB):c.213C>T (p.Ile71=)
NM_001101.5(ACTB):c.219C>T (p.His73=) rs1166509821
NM_001101.5(ACTB):c.228C>T (p.Val76=) rs1562719788
NM_001101.5(ACTB):c.231C>A (p.Thr77=) rs2128241400
NM_001101.5(ACTB):c.231C>T (p.Thr77=)
NM_001101.5(ACTB):c.24C>A (p.Leu8=)
NM_001101.5(ACTB):c.24C>T (p.Leu8=)
NM_001101.5(ACTB):c.276T>C (p.Asn92=)
NM_001101.5(ACTB):c.27C>G (p.Val9=)
NM_001101.5(ACTB):c.27C>T (p.Val9=)
NM_001101.5(ACTB):c.294C>T (p.Pro98=)
NM_001101.5(ACTB):c.297G>A (p.Glu99=)
NM_001101.5(ACTB):c.30C>T (p.Val10=)
NM_001101.5(ACTB):c.310C>T (p.Leu104=)
NM_001101.5(ACTB):c.313C>T (p.Leu105=)
NM_001101.5(ACTB):c.318C>G (p.Thr106=)
NM_001101.5(ACTB):c.318C>T (p.Thr106=) rs201751687
NM_001101.5(ACTB):c.327C>T (p.Pro109=)
NM_001101.5(ACTB):c.351G>A (p.Glu117=)
NM_001101.5(ACTB):c.363+15A>G rs772907450
NM_001101.5(ACTB):c.363+17C>T
NM_001101.5(ACTB):c.363+8G>T
NM_001101.5(ACTB):c.364-11C>G
NM_001101.5(ACTB):c.364-16_364-15delinsCG
NM_001101.5(ACTB):c.364-4_364-3insAA rs751359436
NM_001101.5(ACTB):c.364-5T>G
NM_001101.5(ACTB):c.364-7C>A
NM_001101.5(ACTB):c.364-7C>T rs764266143
NM_001101.5(ACTB):c.366C>A (p.Ile122=) rs1584262227
NM_001101.5(ACTB):c.366C>T (p.Ile122=)
NM_001101.5(ACTB):c.387C>T (p.Thr129=)
NM_001101.5(ACTB):c.393C>T (p.Ala131=)
NM_001101.5(ACTB):c.399C>T (p.Tyr133=)
NM_001101.5(ACTB):c.414T>C (p.Ala138=)
NM_001101.5(ACTB):c.423C>T (p.Ser141=)
NM_001101.5(ACTB):c.42C>G (p.Ser14=)
NM_001101.5(ACTB):c.432C>T (p.Ala144=) rs1254718824
NM_001101.5(ACTB):c.471C>T (p.Asp157=)
NM_001101.5(ACTB):c.495C>T (p.Ile165=)
NM_001101.5(ACTB):c.498C>T (p.Tyr166=)
NM_001101.5(ACTB):c.510C>T (p.Ala170=)
NM_001101.5(ACTB):c.516C>G (p.Pro172=) rs756590817
NM_001101.5(ACTB):c.516C>T (p.Pro172=)
NM_001101.5(ACTB):c.522C>T (p.Ala174=)
NM_001101.5(ACTB):c.525C>T (p.Ile175=)
NM_001101.5(ACTB):c.537C>T (p.Asp179=) rs797044950
NM_001101.5(ACTB):c.54G>A (p.Lys18=)
NM_001101.5(ACTB):c.555G>C (p.Leu185=)
NM_001101.5(ACTB):c.561C>T (p.Asp187=)
NM_001101.5(ACTB):c.57C>T (p.Ala19=)
NM_001101.5(ACTB):c.582C>G (p.Thr194=)
NM_001101.5(ACTB):c.609G>A (p.Thr203=) rs148292298
NM_001101.5(ACTB):c.60C>T (p.Gly20=)
NM_001101.5(ACTB):c.621A>G (p.Glu207=) rs1784812389
NM_001101.5(ACTB):c.660C>T (p.Ala220=)
NM_001101.5(ACTB):c.661C>T (p.Leu221=)
NM_001101.5(ACTB):c.687G>T (p.Thr229=) rs138499594
NM_001101.5(ACTB):c.699C>T (p.Ser233=)
NM_001101.5(ACTB):c.69C>T (p.Gly23=)
NM_001101.5(ACTB):c.706C>T (p.Leu236=)
NM_001101.5(ACTB):c.724C>T (p.Leu242=)
NM_001101.5(ACTB):c.72C>T (p.Asp24=)
NM_001101.5(ACTB):c.783C>A (p.Leu261=) rs1057523531
NM_001101.5(ACTB):c.786C>T (p.Phe262=) rs2128241261
NM_001101.5(ACTB):c.78C>T (p.Ala26=) rs1172866708
NM_001101.5(ACTB):c.798C>T (p.Phe266=)
NM_001101.5(ACTB):c.799C>T (p.Leu267=)
NM_001101.5(ACTB):c.802+10G>A
NM_001101.5(ACTB):c.802+10G>C
NM_001101.5(ACTB):c.802+12C>T
NM_001101.5(ACTB):c.802+13_802+19dup
NM_001101.5(ACTB):c.802+15_802+22del rs1411297835
NM_001101.5(ACTB):c.802+17dup
NM_001101.5(ACTB):c.802+18C>A
NM_001101.5(ACTB):c.802+18C>T
NM_001101.5(ACTB):c.802+6dup
NM_001101.5(ACTB):c.803-13A>G
NM_001101.5(ACTB):c.803-16C>T
NM_001101.5(ACTB):c.803-17C>T
NM_001101.5(ACTB):c.803-20T>A
NM_001101.5(ACTB):c.803-6T>G
NM_001101.5(ACTB):c.803-7C>G
NM_001101.5(ACTB):c.803-7C>T rs780471227
NM_001101.5(ACTB):c.803-9C>G
NM_001101.5(ACTB):c.803-9C>T rs367990633
NM_001101.5(ACTB):c.813C>G (p.Ser271=)
NM_001101.5(ACTB):c.813C>T (p.Ser271=)
NM_001101.5(ACTB):c.819C>T (p.Gly273=)
NM_001101.5(ACTB):c.81C>A (p.Pro27=)
NM_001101.5(ACTB):c.822C>T (p.Ile274=) rs377390140
NM_001101.5(ACTB):c.834C>A (p.Thr278=) rs754810018
NM_001101.5(ACTB):c.834C>G (p.Thr278=) rs754810018
NM_001101.5(ACTB):c.873A>G (p.Lys291=)
NM_001101.5(ACTB):c.877C>T (p.Leu293=)
NM_001101.5(ACTB):c.885C>T (p.Ala295=)
NM_001101.5(ACTB):c.891A>G (p.Thr297=)
NM_001101.5(ACTB):c.900T>G (p.Ser300=)
NM_001101.5(ACTB):c.903C>A (p.Gly301=)
NM_001101.5(ACTB):c.903C>T (p.Gly301=) rs13447407
NM_001101.5(ACTB):c.90C>T (p.Val30=)
NM_001101.5(ACTB):c.948G>A (p.Glu316=)
NM_001101.5(ACTB):c.966C>T (p.Pro322=)
NM_001101.5(ACTB):c.984+10T>A
NM_001101.5(ACTB):c.984+10T>C
NM_001101.5(ACTB):c.984+12dup rs766398197
NM_001101.5(ACTB):c.984+19T>A
NM_001101.5(ACTB):c.984+9C>T
NM_001101.5(ACTB):c.985-13C>T
NM_001101.5(ACTB):c.985-15C>T
NM_001101.5(ACTB):c.985-16C>T
NM_001101.5(ACTB):c.985-5_985-3del rs772626920
NM_001101.5(ACTB):c.985-7T>A rs1784799522
NM_001101.5(ACTB):c.985-8C>T
NM_001101.5(ACTB):c.996T>G (p.Pro332=)

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