ClinVar Miner

List of variants reported as uncertain significance for Baraitser-Winter syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.124-3C>T rs1189379541 0.00002
NM_001101.5(ACTB):c.984G>A (p.Lys328=) rs754862802 0.00002
NM_001101.5(ACTB):c.123+3A>G rs878963559 0.00001
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser) rs779839358 0.00001
NC_000007.13:g.(?_5567379)_(5568370_?)dup
NC_000007.13:g.(?_5567379)_(5569051_?)dup
NC_000007.13:g.(?_5567379)_(5569288_?)dup
NC_000007.13:g.(?_5567615)_(5569051_?)dup
NM_001101.5(ACTB):c.1004G>C (p.Arg335Pro) rs1784799009
NM_001101.5(ACTB):c.1058A>C (p.Gln353Pro)
NM_001101.5(ACTB):c.1063_1082del (p.Met355fs) rs2128241165
NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys)
NM_001101.5(ACTB):c.1109T>G (p.Val370Gly)
NM_001101.5(ACTB):c.1115G>A (p.Arg372His)
NM_001101.5(ACTB):c.120C>G (p.His40Gln)
NM_001101.5(ACTB):c.123+1G>A rs794729643
NM_001101.5(ACTB):c.123+3A>C
NM_001101.5(ACTB):c.123+4G>A
NM_001101.5(ACTB):c.125G>C (p.Gly42Ala)
NM_001101.5(ACTB):c.136G>C (p.Gly46Arg)
NM_001101.5(ACTB):c.138C>T (p.Gly46=)
NM_001101.5(ACTB):c.209C>A (p.Pro70His) rs587779769
NM_001101.5(ACTB):c.225C>G (p.Ile75Met) rs759412044
NM_001101.5(ACTB):c.22C>G (p.Leu8Val)
NM_001101.5(ACTB):c.240C>G (p.Asp80Glu) rs2128241399
NM_001101.5(ACTB):c.249G>C (p.Glu83Asp)
NM_001101.5(ACTB):c.265A>G (p.Thr89Ala)
NM_001101.5(ACTB):c.275A>G (p.Asn92Ser) rs1784830795
NM_001101.5(ACTB):c.27C>A (p.Val9=) rs1240714871
NM_001101.5(ACTB):c.286G>T (p.Val96Leu) rs2128241393
NM_001101.5(ACTB):c.2T>G (p.Met1Arg)
NM_001101.5(ACTB):c.321G>A (p.Glu107=) rs2128241391
NM_001101.5(ACTB):c.364-17_364-16delinsTC
NM_001101.5(ACTB):c.364-3C>T
NM_001101.5(ACTB):c.364-7C>G rs764266143
NM_001101.5(ACTB):c.369G>A (p.Met123Ile)
NM_001101.5(ACTB):c.373G>A (p.Glu125Lys)
NM_001101.5(ACTB):c.383A>C (p.Asn128Thr)
NM_001101.5(ACTB):c.386C>T (p.Thr129Ile)
NM_001101.5(ACTB):c.400G>A (p.Val134Ile)
NM_001101.5(ACTB):c.440G>A (p.Arg147His)
NM_001101.5(ACTB):c.44G>C (p.Gly15Ala) rs865913177
NM_001101.5(ACTB):c.454G>A (p.Val152Met) rs2128241296
NM_001101.5(ACTB):c.45C>T (p.Gly15=)
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser) rs1784814856
NM_001101.5(ACTB):c.511_522del (p.Leu171_Ala174del)
NM_001101.5(ACTB):c.515C>G (p.Pro172Arg)
NM_001101.5(ACTB):c.537C>G (p.Asp179Glu) rs797044950
NM_001101.5(ACTB):c.548G>A (p.Arg183Gln) rs11546934
NM_001101.5(ACTB):c.551A>C (p.Asp184Ala) rs2128241278
NM_001101.5(ACTB):c.59G>A (p.Gly20Asp) rs536327578
NM_001101.5(ACTB):c.601A>G (p.Thr201Ala)
NM_001101.5(ACTB):c.616dup (p.Arg206fs) rs1784812557
NM_001101.5(ACTB):c.666_671del (p.Asp222_Phe223del)
NM_001101.5(ACTB):c.674_683del (p.Gln225fs)
NM_001101.5(ACTB):c.685A>G (p.Thr229Ala)
NM_001101.5(ACTB):c.686C>T (p.Thr229Met) rs1464535596
NM_001101.5(ACTB):c.728C>T (p.Pro243Leu) rs11546899
NM_001101.5(ACTB):c.733G>A (p.Gly245Ser) rs1784809823
NM_001101.5(ACTB):c.739G>A (p.Val247Ile) rs1784809671
NM_001101.5(ACTB):c.745A>T (p.Thr249Ser) rs2128241268
NM_001101.5(ACTB):c.753C>T (p.Gly251=)
NM_001101.5(ACTB):c.772C>G (p.Pro258Ala)
NM_001101.5(ACTB):c.787del (p.Gln263fs)
NM_001101.5(ACTB):c.801G>T (p.Leu267=) rs2128241260
NM_001101.5(ACTB):c.802+8G>C rs2128241257
NM_001101.5(ACTB):c.812C>T (p.Ser271Phe) rs1784805528
NM_001101.5(ACTB):c.828A>C (p.Glu276Asp) rs2128241241
NM_001101.5(ACTB):c.860T>C (p.Val287Ala) rs2128241238
NM_001101.5(ACTB):c.876C>A (p.Asp292Glu)
NM_001101.5(ACTB):c.880T>G (p.Tyr294Asp) rs1784804578
NM_001101.5(ACTB):c.886A>G (p.Asn296Asp)
NM_001101.5(ACTB):c.890C>T (p.Thr297Ile)
NM_001101.5(ACTB):c.898T>C (p.Ser300Pro)
NM_001101.5(ACTB):c.924C>T (p.Gly308=) rs1584261529
NM_001101.5(ACTB):c.925A>T (p.Ile309Phe)
NM_001101.5(ACTB):c.943_945del (p.Lys315del) rs1584261482
NM_001101.5(ACTB):c.955G>A (p.Ala319Thr)
NM_001101.5(ACTB):c.955G>T (p.Ala319Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.