ClinVar Miner

List of variants studied for GRACILE syndrome

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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_001079866.2(BCS1L):c.655+63C>T rs36085075 0.05627
NM_001079866.2(BCS1L):c.-50+541G>A rs3806556 0.05619
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_001079866.2(BCS1L):c.-50+563G>A rs77595651 0.02820
NM_001079866.2(BCS1L):c.-49-595A>G rs77487601 0.01635
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067 0.00132
NM_001079866.2(BCS1L):c.-14G>A rs367721351 0.00103
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_001079866.2(BCS1L):c.-50+458T>G rs188224298 0.00048
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) rs144200704 0.00039
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001079866.2(BCS1L):c.612C>T (p.Asp204=) rs201726747 0.00014
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001079866.2(BCS1L):c.303T>G (p.Pro101=) rs138756092 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) rs148302981 0.00011
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp) rs141257714 0.00009
NM_001079866.2(BCS1L):c.499G>A (p.Val167Met) rs200882008 0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001079866.2(BCS1L):c.-85G>A rs938140522 0.00005
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) rs756932413 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001079866.2(BCS1L):c.-50+425T>C rs886055625 0.00004
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=) rs374582626 0.00004
NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln) rs386833857 0.00003
NM_001079866.2(BCS1L):c.965C>G (p.Thr322Ser) rs777854469 0.00003
NM_001079866.2(BCS1L):c.967G>A (p.Glu323Lys) rs372817977 0.00003
NM_001079866.2(BCS1L):c.-50+388C>G rs1006907254 0.00002
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg) rs749184815 0.00002
NM_001079866.2(BCS1L):c.383C>T (p.Thr128Met) rs780752138 0.00002
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) rs550497120 0.00001
NM_001079866.2(BCS1L):c.142A>G (p.Met48Val) rs755305281 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.321-12G>A rs776363896 0.00001
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 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.548G>A (p.Arg183His) rs121908577 0.00001
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) rs779331797 0.00001
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) rs1057516255 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001079866.2(BCS1L):c.966C>T (p.Thr322=) rs745785523 0.00001
NM_001079866.2(BCS1L):c.985A>G (p.Met329Val) rs779805975 0.00001
NC_000002.11:g.(?_219524378)_(219528167_?)del
NM_001079866.2(BCS1L):c.-43G>A rs145989550
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.-50+1G>A rs1553595158
NM_001079866.2(BCS1L):c.-50+1G>T rs1553595158
NM_001079866.2(BCS1L):c.-50+2T>G rs1553595166
NM_001079866.2(BCS1L):c.-50+380G>C rs889798623
NM_001079866.2(BCS1L):c.-53G>T rs886055624
NM_001079866.2(BCS1L):c.1007+2_1007+5del rs1553597934
NM_001079866.2(BCS1L):c.1048_1050del (p.Lys350del) rs906812769
NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter) rs1553598145
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) rs886055626
NM_001079866.2(BCS1L):c.1186del (p.Val396fs)
NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup) rs1553598193
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs) rs2106333049
NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs) rs1057516786
NM_001079866.2(BCS1L):c.1A>T (p.Met1Leu)
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.255_257del (p.Gln85del) rs1553596345
NM_001079866.2(BCS1L):c.291_293del (p.Val98del) rs1293818477
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.372dup (p.Asp125fs) rs1553596638
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.418del (p.Leu140fs) rs1057517412
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=) rs2106324466
NM_001079866.2(BCS1L):c.460+1G>A rs1553596761
NM_001079866.2(BCS1L):c.460+2T>C rs1057516954
NM_001079866.2(BCS1L):c.472del (p.Ala158fs) rs1553596929
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter) rs373105002
NM_001079866.2(BCS1L):c.534del (p.Phe179fs) rs1553596996
NM_001079866.2(BCS1L):c.53del (p.Ala18fs) rs1553595997
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) rs1939494232
NM_001079866.2(BCS1L):c.607_615del (p.Arg203_Val205del) rs1553597114
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.655+1G>A rs1057516802
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_001079866.2(BCS1L):c.772del (p.Asp258fs) rs1363475546
NM_001079866.2(BCS1L):c.821del (p.Pro274fs) rs760559534
NM_001079866.2(BCS1L):c.889+1G>A rs1057516346
NM_001079866.2(BCS1L):c.889+2dup rs1553597661
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)
NM_001079866.2(BCS1L):c.973dup (p.Arg325fs) rs1057516518
NM_001079866.2(BCS1L):c.980T>C (p.Val327Ala) rs386833858

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