ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by Genome-Nilou Lab

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001753.5(CAV1):c.30+214A>C rs1997623 0.84863
NM_006412.4(AGPAT2):c.*157C>T rs4880119 0.76858
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75278
NM_001122955.4(BSCL2):c.765+69A>G rs2850596 0.74808
NM_006412.4(AGPAT2):c.661+121T>C rs9411215 0.67675
NM_006412.4(AGPAT2):c.183-60G>C rs2236514 0.59568
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16794
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571

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