ClinVar Miner

List of variants reported as likely benign for Congenital generalized lipodystrophy type 1

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Total variants: 11
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HGVS dbSNP
NM_006412.4(AGPAT2):c.*102C>T
NM_006412.4(AGPAT2):c.*230C>T rs190437134
NM_006412.4(AGPAT2):c.*236C>T
NM_006412.4(AGPAT2):c.*48T>C
NM_006412.4(AGPAT2):c.*510C>T
NM_006412.4(AGPAT2):c.182+6G>A rs373540283
NM_006412.4(AGPAT2):c.182+8C>T rs199860398
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354
NM_006412.4(AGPAT2):c.662-5C>G rs199964729
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461

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