ClinVar Miner

List of variants in gene DYNC2I2 reported as likely benign for Jeune syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_052844.4(DYNC2I2):c.107G>T (p.Gly36Val) rs375929394 0.00165
NM_052844.4(DYNC2I2):c.569C>T (p.Thr190Met) rs142859913 0.00086
NM_052844.4(DYNC2I2):c.19C>T (p.Pro7Ser) rs762357801 0.00051
NM_052844.4(DYNC2I2):c.187-10C>T rs548224589 0.00017
NM_052844.4(DYNC2I2):c.1605G>A (p.Ala535=) rs772894632 0.00015
NM_052844.4(DYNC2I2):c.1372+14G>A rs376782086 0.00013
NM_052844.4(DYNC2I2):c.1310A>G (p.Tyr437Cys) rs186236478 0.00012
NM_052844.4(DYNC2I2):c.390C>T (p.His130=) rs760042500 0.00012
NM_052844.4(DYNC2I2):c.276C>T (p.Pro92=) rs368169728 0.00011
NM_052844.4(DYNC2I2):c.228C>T (p.Ser76=) rs143075961 0.00009
NM_052844.4(DYNC2I2):c.1373-20G>A rs201988969 0.00008
NM_052844.4(DYNC2I2):c.436-11C>T rs750826296 0.00006
NM_052844.4(DYNC2I2):c.393G>A (p.Ala131=) rs760786107 0.00005
NM_052844.4(DYNC2I2):c.9C>T (p.Thr3=) rs564750548 0.00005
NM_052844.4(DYNC2I2):c.111G>T (p.Pro37=) rs779081076 0.00004
NM_052844.4(DYNC2I2):c.1290G>A (p.Ser430=) rs373865808 0.00004
NM_052844.4(DYNC2I2):c.1373-19dup rs757444230 0.00003
NM_052844.4(DYNC2I2):c.1373-6T>C rs761480637 0.00003
NM_052844.4(DYNC2I2):c.173T>G (p.Ile58Ser) rs763670176 0.00003
NM_052844.4(DYNC2I2):c.90G>A (p.Pro30=) rs919478715 0.00003
NM_052844.4(DYNC2I2):c.1215-9C>T rs1038091645 0.00002
NM_052844.4(DYNC2I2):c.1377C>T (p.Asp459=) rs1005115532 0.00002
NM_052844.4(DYNC2I2):c.639G>C (p.Val213=) rs992323389 0.00002
NM_052844.4(DYNC2I2):c.1332C>T (p.Ser444=) rs376351607 0.00001
NM_052844.4(DYNC2I2):c.1431G>A (p.Lys477=) rs769045630 0.00001
NM_052844.4(DYNC2I2):c.1500G>A (p.Ala500=) rs760332947 0.00001
NM_052844.4(DYNC2I2):c.1506T>C (p.Asp502=) rs1054532891 0.00001
NM_052844.4(DYNC2I2):c.1569A>G (p.Glu523=) rs777478835 0.00001
NM_052844.4(DYNC2I2):c.405C>T (p.Phe135=) rs772333040 0.00001
NM_052844.4(DYNC2I2):c.498C>T (p.Ser166=) rs1464019566 0.00001
NM_052844.4(DYNC2I2):c.540C>T (p.Tyr180=) rs542055273 0.00001
NM_052844.4(DYNC2I2):c.60G>A (p.Ala20=) rs1308508874 0.00001
NM_052844.4(DYNC2I2):c.633G>A (p.Ser211=) rs376954350 0.00001
NM_052844.4(DYNC2I2):c.693C>T (p.Ser231=) rs1369315948 0.00001
NM_052844.4(DYNC2I2):c.699C>T (p.Val233=) rs1354880824 0.00001
NM_052844.4(DYNC2I2):c.106_107delinsTT (p.Gly36Leu) rs2132190369
NM_052844.4(DYNC2I2):c.1214+8G>A
NM_052844.4(DYNC2I2):c.1215-10T>C
NM_052844.4(DYNC2I2):c.1215-15C>T
NM_052844.4(DYNC2I2):c.1215-18C>G
NM_052844.4(DYNC2I2):c.1215-6G>A
NM_052844.4(DYNC2I2):c.1215-7C>G rs541309511
NM_052844.4(DYNC2I2):c.1215-7C>T
NM_052844.4(DYNC2I2):c.1242C>T (p.Asp414=)
NM_052844.4(DYNC2I2):c.1245G>A (p.Gly415=)
NM_052844.4(DYNC2I2):c.1251C>T (p.Val417=)
NM_052844.4(DYNC2I2):c.126C>T (p.Thr42=)
NM_052844.4(DYNC2I2):c.1275C>T (p.Ala425=)
NM_052844.4(DYNC2I2):c.1305C>G (p.Leu435=)
NM_052844.4(DYNC2I2):c.1311T>C (p.Tyr437=)
NM_052844.4(DYNC2I2):c.1345T>C (p.Leu449=)
NM_052844.4(DYNC2I2):c.1362C>A (p.Ala454=)
NM_052844.4(DYNC2I2):c.1362C>T (p.Ala454=)
NM_052844.4(DYNC2I2):c.1372+10G>C rs1023019503
NM_052844.4(DYNC2I2):c.1372+12_1372+18del rs1038611808
NM_052844.4(DYNC2I2):c.1372+13C>A
NM_052844.4(DYNC2I2):c.1372+13C>T
NM_052844.4(DYNC2I2):c.1372+13dup
NM_052844.4(DYNC2I2):c.1372+16T>A
NM_052844.4(DYNC2I2):c.1372+19G>A
NM_052844.4(DYNC2I2):c.1372+20C>A
NM_052844.4(DYNC2I2):c.1373-12CT[2]
NM_052844.4(DYNC2I2):c.1373-14G>C
NM_052844.4(DYNC2I2):c.1373-16_1373-15del
NM_052844.4(DYNC2I2):c.1395C>T (p.Leu465=)
NM_052844.4(DYNC2I2):c.1437C>T (p.Thr479=)
NM_052844.4(DYNC2I2):c.1449C>T (p.Ser483=)
NM_052844.4(DYNC2I2):c.1458C>T (p.Tyr486=)
NM_052844.4(DYNC2I2):c.1461T>C (p.Cys487=)
NM_052844.4(DYNC2I2):c.1467G>A (p.Glu489=)
NM_052844.4(DYNC2I2):c.1503C>T (p.Gly501=)
NM_052844.4(DYNC2I2):c.150G>T (p.Ser50=)
NM_052844.4(DYNC2I2):c.1515C>A (p.Gly505=)
NM_052844.4(DYNC2I2):c.1536G>A (p.Leu512=)
NM_052844.4(DYNC2I2):c.153G>A (p.Gln51=)
NM_052844.4(DYNC2I2):c.1564C>A (p.Arg522=)
NM_052844.4(DYNC2I2):c.15G>A (p.Ala5=)
NM_052844.4(DYNC2I2):c.186+15C>T
NM_052844.4(DYNC2I2):c.186+17C>T rs570556602
NM_052844.4(DYNC2I2):c.186+7G>C
NM_052844.4(DYNC2I2):c.187-11C>T
NM_052844.4(DYNC2I2):c.187-18_187-17insTTGTA
NM_052844.4(DYNC2I2):c.201G>A (p.Thr67=) rs2132156412
NM_052844.4(DYNC2I2):c.21G>A (p.Pro7=)
NM_052844.4(DYNC2I2):c.21G>C (p.Pro7=)
NM_052844.4(DYNC2I2):c.252C>T (p.Asp84=)
NM_052844.4(DYNC2I2):c.267G>A (p.Thr89=)
NM_052844.4(DYNC2I2):c.273C>T (p.Ala91=)
NM_052844.4(DYNC2I2):c.27A>T (p.Pro9=)
NM_052844.4(DYNC2I2):c.285C>G (p.Val95=)
NM_052844.4(DYNC2I2):c.288C>T (p.Ser96=)
NM_052844.4(DYNC2I2):c.300G>A (p.Pro100=)
NM_052844.4(DYNC2I2):c.312C>T (p.Asp104=)
NM_052844.4(DYNC2I2):c.324C>G (p.Leu108=)
NM_052844.4(DYNC2I2):c.324C>T (p.Leu108=) rs199987486
NM_052844.4(DYNC2I2):c.330C>T (p.Ala110=)
NM_052844.4(DYNC2I2):c.337C>A (p.Arg113=)
NM_052844.4(DYNC2I2):c.360C>T (p.Ile120=)
NM_052844.4(DYNC2I2):c.420C>G (p.Thr140=) rs541654387
NM_052844.4(DYNC2I2):c.435+11G>A rs202171371
NM_052844.4(DYNC2I2):c.435+12G>C
NM_052844.4(DYNC2I2):c.435+16dup
NM_052844.4(DYNC2I2):c.436-19G>A
NM_052844.4(DYNC2I2):c.436-19G>C
NM_052844.4(DYNC2I2):c.436-20G>C rs1206177711
NM_052844.4(DYNC2I2):c.436-4G>T
NM_052844.4(DYNC2I2):c.436-5C>T
NM_052844.4(DYNC2I2):c.45C>T (p.Ser15=)
NM_052844.4(DYNC2I2):c.465G>A (p.Pro155=)
NM_052844.4(DYNC2I2):c.474A>G (p.Gln158=)
NM_052844.4(DYNC2I2):c.546-12G>A
NM_052844.4(DYNC2I2):c.546-15C>A
NM_052844.4(DYNC2I2):c.555T>C (p.His185=)
NM_052844.4(DYNC2I2):c.570G>A (p.Thr190=)
NM_052844.4(DYNC2I2):c.582C>T (p.Phe194=)
NM_052844.4(DYNC2I2):c.621C>G (p.Pro207=)
NM_052844.4(DYNC2I2):c.636C>T (p.Ala212=)
NM_052844.4(DYNC2I2):c.657T>C (p.Ala219=)
NM_052844.4(DYNC2I2):c.663G>T (p.Leu221=)
NM_052844.4(DYNC2I2):c.703+10C>T
NM_052844.4(DYNC2I2):c.703+13C>T
NM_052844.4(DYNC2I2):c.703+17G>A
NM_052844.4(DYNC2I2):c.72C>T (p.Val24=)
NM_052844.4(DYNC2I2):c.81G>C (p.Ala27=)
NM_052844.4(DYNC2I2):c.84C>T (p.Ser28=)

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