ClinVar Miner

List of variants studied for Congenital generalized lipodystrophy type 1 by OMIM

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Total variants: 9
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HGVS dbSNP
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093
NM_006412.4(AGPAT2):c.366_588+534del
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355
NM_006412.4(AGPAT2):c.415_417TTC[1] (p.Phe140del) rs387906356
NM_006412.4(AGPAT2):c.493-1G>C rs606231168
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) rs121908926
NM_006412.4(AGPAT2):c.589-2A>G rs116807569
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) rs121908925
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) rs104894100

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