ClinVar Miner

List of variants reported as pathogenic for LIPE-related familial partial lipodystrophy by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter) rs766817317
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met) rs558493952
NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn) rs1352544800
NM_033440.3(CELA2A):c.639+1G>C rs752331004

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