ClinVar Miner

List of variants studied for Bjornstad syndrome by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp) rs141257714 0.00009
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp) rs778769841 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) rs770749420 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) rs375876694 0.00002
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) rs550497120 0.00001
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) rs121908574 0.00001
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608 0.00001
NM_001079866.2(BCS1L):c.336G>A (p.Trp112Ter) rs754934987 0.00001
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) rs777735526 0.00001
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met) rs775793638 0.00001
NM_001079866.2(BCS1L):c.463C>T (p.Arg155Ter) rs774688562 0.00001
NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter) rs762980642 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) rs779331797 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys) rs1197613485 0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) rs1280810181 0.00001
NM_001079866.2(BCS1L):c.-50+326A>G
NM_001079866.2(BCS1L):c.1026dup (p.Arg343fs)
NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter)
NM_001079866.2(BCS1L):c.1076G>A (p.Trp359Ter)
NM_001079866.2(BCS1L):c.1156C>T (p.Arg386Ter)
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) rs121908575
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)
NM_001079866.2(BCS1L):c.280_281del (p.Lys94fs) rs1939382793
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.321-2A>G
NM_001079866.2(BCS1L):c.372dup (p.Asp125fs) rs1553596638
NM_001079866.2(BCS1L):c.397G>T (p.Glu133Ter)
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.401_402del (p.Ser134fs)
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001079866.2(BCS1L):c.464G>A (p.Arg155Gln)
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter) rs373105002
NM_001079866.2(BCS1L):c.492del (p.Lys165fs)
NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter) rs1559317208
NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)
NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter) rs754414954
NM_001079866.2(BCS1L):c.671_675del (p.Arg224fs)
NM_001079866.2(BCS1L):c.734_735delinsC (p.Gly245fs)
NM_001079866.2(BCS1L):c.793C>T (p.Arg265Ter)
NM_001079866.2(BCS1L):c.793_796del (p.Arg265fs)
NM_001079866.2(BCS1L):c.821del (p.Pro274fs) rs760559534
NM_001079866.2(BCS1L):c.876del (p.Leu293fs)
NM_001079866.2(BCS1L):c.897_898insCC (p.Lys300fs)
NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter) rs1939635954
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)
NM_001079866.2(BCS1L):c.993_999del (p.Asn332fs)

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