ClinVar Miner

List of variants reported as likely pathogenic for Baraitser-Winter cerebrofrontofacial syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala) rs1784814961 0.00001
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser) rs779839358 0.00001
NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe) rs1554329113
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg) rs2128241170
NM_001101.5(ACTB):c.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.5(ACTB):c.118C>T (p.His40Tyr) rs1373863123
NM_001101.5(ACTB):c.124G>A (p.Gly42Ser) rs1562719872
NM_001101.5(ACTB):c.142G>T (p.Gly48Cys) rs2128241410
NM_001101.5(ACTB):c.143G>A (p.Gly48Asp) rs886041268
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys) rs2128241408
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.217C>T (p.His73Tyr) rs786205585
NM_001101.5(ACTB):c.219C>G (p.His73Gln)
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) rs587779770
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001101.5(ACTB):c.323C>A (p.Ala108Asp) rs1411316425
NM_001101.5(ACTB):c.325C>T (p.Pro109Ser) rs1784829872
NM_001101.5(ACTB):c.491C>A (p.Pro164His) rs1784814819
NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr) rs1784841309
NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)
NM_001101.5(ACTB):c.527T>C (p.Leu176Pro) rs1554329331
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu) rs281875334
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.598T>G (p.Phe200Val) rs2128241275
NM_001101.5(ACTB):c.602C>T (p.Thr201Ile)
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.625G>T (p.Val209Leu) rs587779777
NM_001101.5(ACTB):c.629G>A (p.Arg210His) rs1064793444
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) rs587780273
NM_001101.5(ACTB):c.70G>A (p.Asp24Asn) rs2128241451
NM_001101.5(ACTB):c.721G>A (p.Glu241Lys) rs2128241271
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe) rs1784841235
NM_001101.5(ACTB):c.814T>C (p.Cys272Arg)
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly) rs886041270
NM_001101.5(ACTB):c.83G>A (p.Arg28Gln) rs2128241449
NM_001101.5(ACTB):c.874dup (p.Asp292fs) rs2128241236
NM_001101.5(ACTB):c.931G>C (p.Asp311His) rs1784803432
NM_001101.5(ACTB):c.965C>G (p.Pro322Arg) rs1784802825
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.118C>T (p.His40Tyr) rs1057518673
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
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.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys) rs2031775804
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.459G>A (p.Met153Ile) rs2143779081
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) rs587780275
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) rs11549225
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) rs1598548256
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)

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