ClinVar Miner

List of variants in gene DIAPH1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_005219.5(DIAPH1):c.*88C>T rs574596779 0.00056
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585 0.00016
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=) rs369559394 0.00001
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476

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