ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as likely benign 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: 16
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.88-662C>A rs117597269 0.01291
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.88-634G>C rs575422877 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.88-663G>A rs117862461

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