ClinVar Miner

List of variants in gene DYNC2I2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_052844.4(DYNC2I2):c.1499C>T (p.Ala500Val) rs142210358 0.00051
NM_052844.4(DYNC2I2):c.14C>G (p.Ala5Gly) rs544655044 0.00015
NM_052844.4(DYNC2I2):c.289G>A (p.Val97Met) rs748058396 0.00012
NM_052844.4(DYNC2I2):c.392C>T (p.Ala131Val) rs766392626 0.00010
NM_052844.4(DYNC2I2):c.632C>T (p.Ser211Leu) rs755169068 0.00007
NM_052844.4(DYNC2I2):c.1565G>A (p.Arg522Gln) rs373418441 0.00006
NM_052844.4(DYNC2I2):c.583G>A (p.Val195Met) rs370632485 0.00006
NM_052844.4(DYNC2I2):c.338G>A (p.Arg113Gln) rs141826084 0.00005
NM_052844.4(DYNC2I2):c.348G>T (p.Glu116Asp) rs879908019 0.00005
NM_052844.4(DYNC2I2):c.637G>A (p.Val213Met) rs369755261 0.00004
NM_052844.4(DYNC2I2):c.104C>T (p.Pro35Leu) rs771382594 0.00003
NM_052844.4(DYNC2I2):c.1246C>T (p.His416Tyr) rs371747861 0.00003
NM_052844.4(DYNC2I2):c.1550C>T (p.Thr517Met) rs770066601 0.00003
NM_052844.4(DYNC2I2):c.95C>T (p.Pro32Leu) rs1353426600 0.00003
NM_052844.4(DYNC2I2):c.101G>T (p.Arg34Leu) rs756767978 0.00002
NM_052844.4(DYNC2I2):c.313A>G (p.Ile105Val) rs1192627410 0.00002
NM_052844.4(DYNC2I2):c.23G>T (p.Gly8Val) rs778607596 0.00001
NM_052844.4(DYNC2I2):c.266C>T (p.Thr89Met) rs763370150 0.00001
NM_052844.4(DYNC2I2):c.428A>C (p.Gln143Pro) rs572436409 0.00001
NM_052844.4(DYNC2I2):c.46G>A (p.Ala16Thr) rs1194353567 0.00001
NM_052844.4(DYNC2I2):c.655G>A (p.Ala219Thr) rs767406769 0.00001
NM_052844.4(DYNC2I2):c.8C>T (p.Thr3Ile) rs759289615 0.00001
NM_052844.4(DYNC2I2):c.103C>T (p.Pro35Ser)
NM_052844.4(DYNC2I2):c.1297C>G (p.Leu433Val) rs977977446
NM_052844.4(DYNC2I2):c.1453G>A (p.Val485Ile) rs375843859
NM_052844.4(DYNC2I2):c.1457A>G (p.Tyr486Cys) rs1564336534
NM_052844.4(DYNC2I2):c.145C>T (p.Pro49Ser)
NM_052844.4(DYNC2I2):c.14C>T (p.Ala5Val) rs544655044
NM_052844.4(DYNC2I2):c.1573G>A (p.Glu525Lys)
NM_052844.4(DYNC2I2):c.173T>G (p.Ile58Ser) rs763670176
NM_052844.4(DYNC2I2):c.17A>T (p.Gln6Leu) rs1029015173
NM_052844.4(DYNC2I2):c.218C>A (p.Ala73Asp) rs769830006
NM_052844.4(DYNC2I2):c.275C>T (p.Pro92Leu) rs2542446159
NM_052844.4(DYNC2I2):c.286A>G (p.Ser96Gly) rs2132156114
NM_052844.4(DYNC2I2):c.28C>G (p.Leu10Val) rs781641385
NM_052844.4(DYNC2I2):c.321G>C (p.Arg107Ser) rs2542445962
NM_052844.4(DYNC2I2):c.337C>T (p.Arg113Trp) rs199920288
NM_052844.4(DYNC2I2):c.362G>A (p.Arg121Gln) rs758760187
NM_052844.4(DYNC2I2):c.44G>A (p.Ser15Asn) rs752793349
NM_052844.4(DYNC2I2):c.505T>C (p.Trp169Arg) rs2542439665
NM_052844.4(DYNC2I2):c.604C>T (p.Arg202Trp) rs368141165
NM_052844.4(DYNC2I2):c.629C>G (p.Pro210Arg) rs780689247
NM_052844.4(DYNC2I2):c.654C>A (p.Ser218Arg) rs750407126
NM_052844.4(DYNC2I2):c.74G>T (p.Gly25Val)
NM_052844.4(DYNC2I2):c.80C>T (p.Ala27Val)
NM_052844.4(DYNC2I2):c.83G>A (p.Ser28Asn) rs1418773951

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