List of variants studied for congenital generalized lipodystrophy type 2 by GeneReviews

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.864-2A>C	rs766061024	0.00003
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	rs786205071	0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)	rs137852970	0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)	rs137852971	0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)	rs587777606	0.00001
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)	rs137852974
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe)	rs1057517657
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs)	rs1057517658
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs)	rs1057517659
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs)	rs587777608
NM_001122955.4(BSCL2):c.766-2A>G	rs1013079991
NM_001122955.4(BSCL2):c.863+5G>A	rs786205072
NM_001122955.4(BSCL2):c.864-2A>G	rs766061024
NM_001122955.4(BSCL2):c.864-3C>G	rs786205073
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	rs749890533

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