ClinVar Miner

List of variants in gene FIG4 reported as pathogenic for Yunis-Varon syndrome

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Total variants: 5
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HGVS dbSNP
NM_014845.5(FIG4):c.1260_1261del (p.Thr422fs) rs397509394
NM_014845.5(FIG4):c.290-2A>G rs587777715
NM_014845.5(FIG4):c.311G>A (p.Gly104Asp) rs397509395
NM_014845.5(FIG4):c.524T>C (p.Leu175Pro) rs397514707
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937

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