ClinVar Miner

List of variants studied for Congenital generalized lipodystrophy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_006412.4(AGPAT2):c.493-3C>T rs764555217 0.00001
NM_006412.4(AGPAT2):c.*212_*217dup rs145169122
NM_006412.4(AGPAT2):c.-10GGGCC[3] (p.Met1fs) rs886063723
NM_006412.4(AGPAT2):c.-51GGAGCG[2] rs376582855
NM_006412.4(AGPAT2):c.313A>G (p.Met105Val) rs2119186288
NM_006412.4(AGPAT2):c.40CTG[5] (p.Leu17dup) rs745429291

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