List of variants reported for Congenital generalized lipodystrophy type 2 by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	rs145649423	0.00301
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	rs185341934	0.00096
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)	rs140676897	0.00043
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)	rs149466797	0.00016
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)	rs1057524897	0.00002
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)	rs556562410
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	rs747175358

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