ClinVar Miner

List of variants studied for Familial partial lipodystrophy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00012
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001

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