ClinVar Miner

List of variants in gene DYNC2I1 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys) rs2709859 0.99194
NM_018051.5(DYNC2I1):c.2547-22_2547-21insC rs34181207 0.85394
NM_018051.5(DYNC2I1):c.2073A>G (p.Lys691=) rs2730238 0.85247
NM_018051.5(DYNC2I1):c.2372-9C>T rs2244789 0.76494
NM_018051.5(DYNC2I1):c.2778+36T>A rs2657331 0.48169
NM_018051.5(DYNC2I1):c.818A>G (p.Gln273Arg) rs2788478 0.43909
NM_018051.5(DYNC2I1):c.2094+24A>G rs6459913 0.35665
NM_018051.5(DYNC2I1):c.1921+24A>G rs10279428 0.18135
NM_018051.5(DYNC2I1):c.2976C>T (p.Val992=) rs34634437 0.16768
NM_018051.5(DYNC2I1):c.1137+23T>C rs842703 0.14437
NM_018051.5(DYNC2I1):c.490G>A (p.Val164Ile) rs78313003 0.06387
NM_018051.5(DYNC2I1):c.2385G>A (p.Leu795=) rs61747095 0.03840
NM_018051.5(DYNC2I1):c.2371+4C>T rs2286113 0.02993
NM_018051.5(DYNC2I1):c.2395A>G (p.Ile799Val) rs61733022 0.02653
NM_018051.5(DYNC2I1):c.1800C>T (p.Ala600=) rs41271220 0.01447
NM_018051.5(DYNC2I1):c.1791+5A>G rs41271217 0.01256
NM_018051.5(DYNC2I1):c.604C>G (p.Leu202Val) rs73527702 0.00999
NM_018051.5(DYNC2I1):c.941C>T (p.Ala314Val) rs139730326 0.00984
NM_018051.5(DYNC2I1):c.2418G>T (p.Gly806=) rs11505215 0.00726
NM_018051.5(DYNC2I1):c.1685G>A (p.Ser562Asn) rs143753088 0.00545
NM_018051.5(DYNC2I1):c.2354C>T (p.Pro785Leu) rs61733021 0.00358
NM_018051.5(DYNC2I1):c.1791+19T>C rs199724771 0.00284
NM_018051.5(DYNC2I1):c.1465C>G (p.Arg489Gly) rs116193143 0.00213
NM_018051.5(DYNC2I1):c.1922-16T>C rs141233540 0.00189
NM_018051.5(DYNC2I1):c.1370C>A (p.Ser457Tyr) rs144444098 0.00182
NM_018051.5(DYNC2I1):c.2397C>T (p.Ile799=) rs116197118 0.00152
NM_018051.5(DYNC2I1):c.2826G>C (p.Ala942=) rs140787294 0.00146
NM_018051.5(DYNC2I1):c.2793C>T (p.Asp931=) rs199624775 0.00123
NM_018051.5(DYNC2I1):c.3081T>C (p.Ser1027=) rs182098988 0.00056
NM_018051.5(DYNC2I1):c.519T>C (p.Asp173=) rs76115834 0.00056
NM_018051.5(DYNC2I1):c.2985G>A (p.Gln995=) rs534300999 0.00039
NM_018051.5(DYNC2I1):c.2538G>C (p.Leu846Phe) rs201839458 0.00026
NM_018051.5(DYNC2I1):c.3118G>A (p.Ala1040Thr) rs539815300 0.00023
NM_018051.5(DYNC2I1):c.1461-14A>C rs780344639 0.00011
NM_018051.5(DYNC2I1):c.3045T>C (p.Gly1015=) rs377462355 0.00009
NM_018051.5(DYNC2I1):c.2257+10A>G rs747339634 0.00006
NM_018051.5(DYNC2I1):c.1792-7C>A rs548044469 0.00002
NM_018051.5(DYNC2I1):c.1702+14C>G
NM_018051.5(DYNC2I1):c.1922-4del rs113911955
NM_018051.5(DYNC2I1):c.2868G>A (p.Ala956=)
NM_018051.5(DYNC2I1):c.313_315del (p.Lys105del) rs3833679

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