ClinVar Miner

List of variants in gene CCDC40 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.2832+313A>G rs7210679 0.25232
NM_017950.4(CCDC40):c.1562+266G>A rs117430046 0.02418
NM_017950.4(CCDC40):c.3021+24_3021+25del rs139301500 0.02127
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_017950.4(CCDC40):c.1160-57G>C rs146646353 0.01444
NM_017950.4(CCDC40):c.3180+249T>C rs77024302 0.01120
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=) rs4889815 0.00968
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_017950.4(CCDC40):c.2832+413A>G rs374493149 0.00730
NM_017950.4(CCDC40):c.30-57G>A rs146081939 0.00637
NM_017950.4(CCDC40):c.2832+466_2832+467del rs570440845 0.00603
NM_017950.4(CCDC40):c.1317+90C>T rs114988722 0.00586
NM_017950.4(CCDC40):c.1441-18C>G rs181295177 0.00530
NM_017950.4(CCDC40):c.2832+20G>A rs78493584 0.00516
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00395
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr) rs116795025 0.00354
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn) rs115850223 0.00301
NM_017950.4(CCDC40):c.93+238G>A rs143175626 0.00300
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_017950.4(CCDC40):c.2832+463_2832+476del rs781279746 0.00156
NM_017950.4(CCDC40):c.2832+491C>A rs1280184366 0.00152
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.2958C>T (p.Leu986=) rs78945041 0.00076
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=) rs146360951 0.00034
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) rs200701665 0.00016
NM_017950.4(CCDC40):c.189A>C (p.Ala63=) rs1469935603 0.00003
NM_017950.4(CCDC40):c.3012C>T (p.Asp1004=) rs372975825 0.00003
NM_017950.4(CCDC40):c.1056C>T (p.His352=) rs771256494 0.00001
NM_017950.4(CCDC40):c.1533G>A (p.Glu511=) rs1230162921 0.00001
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg) rs200154414
NM_017950.4(CCDC40):c.1562+124G>A
NM_017950.4(CCDC40):c.1562+2003C>A
NM_017950.4(CCDC40):c.1563-158AAAT[13] rs60850594
NM_017950.4(CCDC40):c.1990-10A>G rs1598538379
NM_017950.4(CCDC40):c.2205G>A (p.Lys735=) rs1598538834
NM_017950.4(CCDC40):c.2832+274_2832+337del rs2143760779
NM_017950.4(CCDC40):c.2832+304A>G
NM_017950.4(CCDC40):c.2832+315G>A rs567724903
NM_017950.4(CCDC40):c.2832+381_2832+412del rs1384333635
NM_017950.4(CCDC40):c.2832+381_2832+473del rs1567813490
NM_017950.4(CCDC40):c.2832+462A>C
NM_017950.4(CCDC40):c.2832+462_2832+490del rs758946774
NM_017950.4(CCDC40):c.2832+470G>A
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_017950.4(CCDC40):c.3022-146G>A
NM_017950.4(CCDC40):c.3181-103C>T
NM_017950.4(CCDC40):c.3181-129C>T
NM_017950.4(CCDC40):c.3181-225dup rs879645135
NM_017950.4(CCDC40):c.553-5C>T rs1598483962
NM_017950.4(CCDC40):c.93+195del rs201977406

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