ClinVar Miner

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

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Total variants: 64
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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.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+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.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.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.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.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.733G>A (p.Gly245Ser) rs1784809823
NM_001101.5(ACTB):c.739G>A (p.Val247Ile) rs1784809671
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.828A>C (p.Glu276Asp) rs2128241241
NM_001101.5(ACTB):c.876C>A (p.Asp292Glu)
NM_001101.5(ACTB):c.886A>G (p.Asn296Asp)
NM_001101.5(ACTB):c.890C>T (p.Thr297Ile)
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)

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