ClinVar Miner

List of variants reported as likely pathogenic for LIPE-related familial partial lipodystrophy by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005357.4(LIPE):c.551C>A (p.Ser184Ter)	rs149927060	0.00083
NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter)	rs1361929051	0.00001

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