ClinVar Miner

List of variants reported as likely pathogenic for Congenital generalized lipodystrophy type 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	rs138994150	0.00094
NM_006412.4(AGPAT2):c.493-2A>G	rs763254660	0.00001
NM_006412.4(AGPAT2):c.254_258dup (p.Gln87fs)	rs2490701553

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