ClinVar Miner

List of variants in gene PNPLA2 reported as uncertain significance by Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_020376.4(PNPLA2):c.399_404del (p.Asn133_Ser134del) rs1351112659
NM_020376.4(PNPLA2):c.553T>C (p.Ser185Pro) rs1845699284

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