ClinVar Miner

List of variants studied for Stromme syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln) rs535739714 0.00004
NM_016343.4(CENPF):c.9200C>T (p.Thr3067Met) rs752309258 0.00001

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