List of variants studied for LIPE-related familial partial lipodystrophy

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005357.4(LIPE):c.551C>A (p.Ser184Ter)	rs149927060	0.00084
NM_005357.4(LIPE):c.3040G>A (p.Val1014Met)	rs193061079	0.00027
NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys)	rs370955937	0.00021
NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter)	rs1361929051	0.00001
NM_005357.4(LIPE):c.913C>T (p.Arg305Cys)	rs373430897	0.00001
NM_005357.4(LIPE):c.1519_1520dup (p.Ser508fs)	rs2514467771
NM_005357.4(LIPE):c.3079C>A (p.Leu1027Met)	rs2039987253
NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter)	rs766817317
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)	rs587777699
NM_005357.4(LIPE):c.3212G>C (p.Gly1071Ala)

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