ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as benign for Congenital generalized lipodystrophy type 2

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75076
NM_001122955.4(BSCL2):c.765+69A>G rs2850596 0.74808
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.88-613G>A rs112877243

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