ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as pathogenic for Berardinelli-Seip congenital lipodystrophy

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
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.1006-2A>G rs879254029
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) rs137852974
NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs) rs786205068
NM_001122955.4(BSCL2):c.402C>G (p.Tyr134Ter) rs557044760
NM_001122955.4(BSCL2):c.404+1G>T rs1565152616
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.630+1G>A rs1945400235
NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs) rs1565144681
NM_001122955.4(BSCL2):c.766-2A>G rs1013079991
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile) rs1565144468
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.864-3C>G rs786205073
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs) rs1554983076
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533

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