ClinVar Miner

List of variants in gene LIPE, LOC101930071 studied for LIPE-related familial partial lipodystrophy

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005357.4(LIPE):c.3040G>A (p.Val1014Met) rs193061079 0.00027
NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter) rs1361929051 0.00001
NM_005357.4(LIPE):c.1519_1520dup (p.Ser508fs)
NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys)
NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter) rs766817317
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699

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