ClinVar Miner

List of variants studied for Stromme syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016343.4(CENPF):c.1026del (p.Glu342fs) rs1064795215
NM_016343.4(CENPF):c.1323+1G>A rs1657782821
NM_016343.4(CENPF):c.7983+2_7983+3insG rs780992243
NM_016343.4(CENPF):c.8033dup (p.Asp2679fs) rs886041436

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