ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by Inherited Neuropathy Consortium Ii, University Of Miami

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.405-11A>G rs1434874435 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) rs137852975 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) rs137852974
NM_001122955.4(BSCL2):c.299G>A (p.Cys100Tyr)
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs) rs1057517658
NM_001122955.4(BSCL2):c.358_376del (p.Tyr120fs)
NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs) rs786205068
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs) rs1057517659
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala) rs1565150951
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.464T>C (p.Leu155Pro)
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser) rs772536764
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs) rs786205069
NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs) rs786205070
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.529G>T (p.Glu177Ter)
NM_001122955.4(BSCL2):c.538G>T (p.Glu180Ter) rs587777607
NM_001122955.4(BSCL2):c.630+1G>A rs1945400235
NM_001122955.4(BSCL2):c.631-2A>C
NM_001122955.4(BSCL2):c.752A>G (p.Tyr251Cys)
NM_001122955.4(BSCL2):c.766-2A>G rs1013079991
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs) rs758843908
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) rs1064797076
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.864-2A>G rs766061024
NM_001122955.4(BSCL2):c.864-3C>G rs786205073
NM_001122955.4(BSCL2):c.876C>G (p.Tyr292Ter)
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533

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