ClinVar Miner

List of variants reported as likely benign for Berardinelli-Seip congenital lipodystrophy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001130702.2(BSCL2):c.833C>T (p.Pro278Leu) rs17850877
NM_006412.3(AGPAT2):c.*212_*217dupGGCTCG rs145169122
NM_006412.3(AGPAT2):c.*239G>A rs56310643
NM_006412.3(AGPAT2):c.*535C>T rs138670030
NM_006412.3(AGPAT2):c.*79C>G rs112657922
NM_006412.3(AGPAT2):c.-67G>C rs146341067
NM_006412.3(AGPAT2):c.189C>T (p.Ile63=) rs150180733
NM_006412.3(AGPAT2):c.317-7C>T rs74584184
NM_006412.3(AGPAT2):c.345C>T (p.Cys115=) rs73668354
NM_006412.3(AGPAT2):c.49_51dupCTG (p.Leu17_Val18insLeu) rs745429291
NM_032667.6(BSCL2):c.-133G>A rs112877243
NM_032667.6(BSCL2):c.-154G>C rs575422877
NM_032667.6(BSCL2):c.-182C>A rs117597269
NM_032667.6(BSCL2):c.-183G>A rs117862461
NM_032667.6(BSCL2):c.-194G>T rs549450153
NM_032667.6(BSCL2):c.-60G>A rs3763853
NM_032667.6(BSCL2):c.-69C>T rs201493373
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.423C>T (p.Ser141=) rs140208002
NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr) rs10776
NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg) rs151018278
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032667.6(BSCL2):c.669C>T (p.Leu223=) rs370926100
NM_032667.6(BSCL2):c.747C>T (p.Ile249=) rs200300686
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) rs144245125

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