ClinVar Miner

List of variants in gene CCDC40 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_017950.3(CCDC40):c.1440+1G>C rs886042621
NM_017950.3(CCDC40):c.1590C>T (p.Thr530=) rs750134735
NM_017950.3(CCDC40):c.180G>A (p.Ala60=) rs185006459
NM_017950.3(CCDC40):c.200G>A (p.Gly67Glu) rs794727512
NM_017950.3(CCDC40):c.207G>C (p.Val69=) rs2289527
NM_017950.3(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307
NM_017950.3(CCDC40):c.248delC (p.Ala83Valfs) rs397515393
NM_017950.3(CCDC40):c.2585G>A (p.Arg862Gln) rs755608579
NM_017950.3(CCDC40):c.2824_2825insCTGT (p.Arg942Thrfs) rs587778819
NM_017950.3(CCDC40):c.2911G>A (p.Val971Ile) rs746632559
NM_017950.3(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035
NM_017950.3(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957
NM_017950.3(CCDC40):c.334A>G (p.Thr112Ala) rs201709592
NM_017950.3(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_017950.3(CCDC40):c.3408C>T (p.Leu1136=) rs186591691
NM_017950.3(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528
NM_017950.3(CCDC40):c.630C>T (p.Ser210=) rs117419007
NM_017950.3(CCDC40):c.855+4A>G rs138001923

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