ClinVar Miner

List of variants reported as likely pathogenic by Medical Genetics, Taibah University College of Applied Medical Sciences

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001039886.4(ZNF808):c.1448dup (p.Tyr483Ter) rs2514374700
NM_001377229.1(DISP1):c.431C>G (p.Ser144Cys)
NM_001388303.1(HECTD4):c.6367C>T (p.Gln2123Ter) rs2499880851
NM_002396.5(ME2):c.1379_1380del (p.Phe460fs)
NM_005742.4(PDIA6):c.702del (p.Arg235fs) rs2465035373
NM_014671.3(UBE3C):c.1999del (p.Asp667fs) rs2535694722

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