ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as likely pathogenic for congenital generalized lipodystrophy type 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.737_738insCCG (p.Glu246delinsAspArg) rs747297291 0.00001
NM_001122955.4(BSCL2):c.1235-2A>C rs1565142553
NM_001122955.4(BSCL2):c.486+1G>T rs1011200048
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) rs1064797076
NM_001122955.4(BSCL2):c.862dup (p.Arg288fs) rs2134695130

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