ClinVar Miner

List of variants in gene CCDC40 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.3021+24_3021+25del rs139301500 0.02127
NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser) rs59896146 0.00264
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg) rs200815406 0.00200
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr) rs141343307 0.00161
NM_017950.4(CCDC40):c.1440+16G>A rs192026179 0.00155
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_017950.4(CCDC40):c.850G>C (p.Asp284His) rs201042940 0.00099
NM_017950.4(CCDC40):c.1722C>A (p.Thr574=) rs201559168 0.00078
NM_017950.4(CCDC40):c.1806+8C>T rs182104049 0.00076
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_017950.4(CCDC40):c.699T>C (p.Asp233=) rs9893189 0.00069
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_017950.4(CCDC40):c.*17C>T rs202179507 0.00038
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_017950.4(CCDC40):c.384A>G (p.Ala128=) rs375586063 0.00024
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=) rs202075842 0.00016
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=) rs79588289 0.00010
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=) rs372856318 0.00010
NM_017950.4(CCDC40):c.666G>A (p.Ser222=) rs199671771 0.00010
NM_017950.4(CCDC40):c.2449+19G>A rs537011469 0.00006
NM_017950.4(CCDC40):c.636C>T (p.Ile212=) rs754379326 0.00006
NM_017950.4(CCDC40):c.470C>T (p.Thr157Ile) rs755159452 0.00004
NM_017950.4(CCDC40):c.141C>T (p.Val47=) rs756511342 0.00002
NM_017950.4(CCDC40):c.1038G>A (p.Glu346=) rs753690300
NM_017950.4(CCDC40):c.1531G>C (p.Glu511Gln) rs59978698
NM_017950.4(CCDC40):c.1562+1948C>T
NM_017950.4(CCDC40):c.1562+1971C>T
NM_017950.4(CCDC40):c.2163C>A (p.Ile721=) rs886038639
NM_017950.4(CCDC40):c.2913C>T (p.Val971=)
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val) rs886038640
NM_017950.4(CCDC40):c.489C>T (p.His163=)
NM_017950.4(CCDC40):c.677-3del rs886038641
NM_017950.4(CCDC40):c.856-35_856-24del

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