List of variants reported as likely pathogenic for PPARG-related familial partial lipodystrophy

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.1317C>A (p.Val439=)	rs1057516190
NM_138711.6(PPARG):c.1124T>C (p.Leu375Pro)	rs2125285337
NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro)	rs1553653993
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu)	rs121909244
NM_138711.6(PPARG):c.353G>A (p.Gly118Glu)	rs2125177235
NM_138711.6(PPARG):c.380A>G (p.Glu127Gly)	rs1553643326
NM_138711.6(PPARG):c.491G>A (p.Arg164Gln)	rs148195788
NM_138711.6(PPARG):c.545G>A (p.Arg182Gln)	rs1553647989
NM_138711.6(PPARG):c.614_615del (p.Glu205fs)	rs2050647141
NM_138711.6(PPARG):c.614_616delinsC (p.Glu205fs)	rs2050647473
NM_138711.6(PPARG):c.629G>C (p.Arg210Pro)	rs150296212
NM_138711.6(PPARG):c.841C>T (p.Gln281Ter)	rs2125284331
NM_138711.6(PPARG):c.881T>C (p.Ile294Thr)	rs1378972597

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