ClinVar Miner

List of variants in gene DYNC2I2 reported as uncertain significance for short rib dysplasia

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 127
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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.1363T>C (p.Ser455Pro) rs146562225 0.00022
NM_052844.4(DYNC2I2):c.14C>G (p.Ala5Gly) rs544655044 0.00015
NM_052844.4(DYNC2I2):c.289G>A (p.Val97Met) rs748058396 0.00013
NM_052844.4(DYNC2I2):c.392C>T (p.Ala131Val) rs766392626 0.00010
NM_052844.4(DYNC2I2):c.1565G>A (p.Arg522Gln) rs373418441 0.00006
NM_052844.4(DYNC2I2):c.338G>A (p.Arg113Gln) rs141826084 0.00006
NM_052844.4(DYNC2I2):c.554A>G (p.His185Arg) rs544202763 0.00006
NM_052844.4(DYNC2I2):c.583G>A (p.Val195Met) rs370632485 0.00006
NM_052844.4(DYNC2I2):c.1246C>T (p.His416Tyr) rs371747861 0.00004
NM_052844.4(DYNC2I2):c.299C>T (p.Pro100Leu) rs202215428 0.00004
NM_052844.4(DYNC2I2):c.637G>A (p.Val213Met) rs369755261 0.00004
NM_052844.4(DYNC2I2):c.1504G>A (p.Asp502Asn) rs776327242 0.00003
NM_052844.4(DYNC2I2):c.1550C>T (p.Thr517Met) rs770066601 0.00003
NM_052844.4(DYNC2I2):c.1564C>T (p.Arg522Trp) rs368864898 0.00003
NM_052844.4(DYNC2I2):c.1289C>T (p.Ser430Leu) rs746996134 0.00002
NM_052844.4(DYNC2I2):c.313A>G (p.Ile105Val) rs1192627410 0.00002
NM_052844.4(DYNC2I2):c.435+6G>C rs756949101 0.00002
NM_052844.4(DYNC2I2):c.605G>A (p.Arg202Gln) rs777142657 0.00002
NM_052844.4(DYNC2I2):c.677A>G (p.His226Arg) rs139362186 0.00002
NM_052844.4(DYNC2I2):c.1219C>G (p.Leu407Val) rs1269390021 0.00001
NM_052844.4(DYNC2I2):c.1424T>C (p.Leu475Ser) rs748451019 0.00001
NM_052844.4(DYNC2I2):c.1481A>G (p.Gln494Arg) rs776473267 0.00001
NM_052844.4(DYNC2I2):c.1562C>T (p.Pro521Leu) rs1860237724 0.00001
NM_052844.4(DYNC2I2):c.1600G>A (p.Val534Met) rs1172178384 0.00001
NM_052844.4(DYNC2I2):c.266C>T (p.Thr89Met) rs763370150 0.00001
NM_052844.4(DYNC2I2):c.325G>A (p.Ala109Thr) rs773435636 0.00001
NM_052844.4(DYNC2I2):c.40G>A (p.Gly14Arg) rs778409061 0.00001
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00001
NM_052844.4(DYNC2I2):c.59C>T (p.Ala20Val) rs1377064833 0.00001
NM_052844.4(DYNC2I2):c.700G>A (p.Ala234Thr) rs762438684 0.00001
NM_052844.4(DYNC2I2):c.8C>T (p.Thr3Ile) rs759289615 0.00001
NC_000009.11:g.(?_131402950)_(131403238_?)del
NC_000009.11:g.(?_131418800)_(131419005_?)dup
NM_052844.4(DYNC2I2):c.116A>G (p.Gln39Arg) rs1000127877
NM_052844.4(DYNC2I2):c.1212C>T (p.His404=)
NM_052844.4(DYNC2I2):c.1214+5G>A
NM_052844.4(DYNC2I2):c.123G>C (p.Glu41Asp)
NM_052844.4(DYNC2I2):c.1241A>G (p.Asp414Gly) rs2132136694
NM_052844.4(DYNC2I2):c.1244G>A (p.Gly415Glu) rs2132136665
NM_052844.4(DYNC2I2):c.1249G>A (p.Val417Ile)
NM_052844.4(DYNC2I2):c.1256T>G (p.Leu419Arg)
NM_052844.4(DYNC2I2):c.1264A>G (p.Met422Val)
NM_052844.4(DYNC2I2):c.1291C>A (p.Leu431Met)
NM_052844.4(DYNC2I2):c.1297C>G (p.Leu433Val)
NM_052844.4(DYNC2I2):c.130G>T (p.Gly44Cys)
NM_052844.4(DYNC2I2):c.1321G>A (p.Val441Met)
NM_052844.4(DYNC2I2):c.1325G>A (p.Arg442His)
NM_052844.4(DYNC2I2):c.1336G>T (p.Val446Leu) rs746286697
NM_052844.4(DYNC2I2):c.133G>A (p.Val45Met)
NM_052844.4(DYNC2I2):c.1354G>C (p.Ala452Pro) rs2132135903
NM_052844.4(DYNC2I2):c.1355C>T (p.Ala452Val)
NM_052844.4(DYNC2I2):c.1357G>A (p.Ala453Thr)
NM_052844.4(DYNC2I2):c.1360G>A (p.Ala454Thr)
NM_052844.4(DYNC2I2):c.1361C>G (p.Ala454Gly)
NM_052844.4(DYNC2I2):c.1372+5del rs772722096
NM_052844.4(DYNC2I2):c.137C>T (p.Ala46Val) rs1234829068
NM_052844.4(DYNC2I2):c.140C>G (p.Ser47Cys) rs1860830386
NM_052844.4(DYNC2I2):c.140C>T (p.Ser47Phe)
NM_052844.4(DYNC2I2):c.1412A>G (p.Lys471Arg) rs2132131817
NM_052844.4(DYNC2I2):c.1417A>C (p.Thr473Pro)
NM_052844.4(DYNC2I2):c.1429A>G (p.Lys477Glu) rs2132131357
NM_052844.4(DYNC2I2):c.1449C>A (p.Ser483Arg) rs1445564979
NM_052844.4(DYNC2I2):c.1453G>A (p.Val485Ile) rs375843859
NM_052844.4(DYNC2I2):c.1456T>C (p.Tyr486His)
NM_052844.4(DYNC2I2):c.1457A>G (p.Tyr486Cys)
NM_052844.4(DYNC2I2):c.1496C>T (p.Ala499Val)
NM_052844.4(DYNC2I2):c.14C>A (p.Ala5Glu) rs544655044
NM_052844.4(DYNC2I2):c.1520T>C (p.Val507Ala)
NM_052844.4(DYNC2I2):c.1541C>T (p.Thr514Ile)
NM_052844.4(DYNC2I2):c.1558G>A (p.Gly520Arg)
NM_052844.4(DYNC2I2):c.1564C>G (p.Arg522Gly)
NM_052844.4(DYNC2I2):c.1570G>A (p.Ala524Thr) rs752702804
NM_052844.4(DYNC2I2):c.158G>A (p.Arg53Lys)
NM_052844.4(DYNC2I2):c.159G>T (p.Arg53Ser)
NM_052844.4(DYNC2I2):c.1604C>T (p.Ala535Val) rs758735687
NM_052844.4(DYNC2I2):c.1607C>T (p.Ala536Val)
NM_052844.4(DYNC2I2):c.173T>C (p.Ile58Thr) rs763670176
NM_052844.4(DYNC2I2):c.17A>C (p.Gln6Pro)
NM_052844.4(DYNC2I2):c.182A>G (p.Glu61Gly)
NM_052844.4(DYNC2I2):c.186G>A (p.Thr62=)
NM_052844.4(DYNC2I2):c.188A>G (p.Lys63Arg)
NM_052844.4(DYNC2I2):c.200C>T (p.Thr67Met)
NM_052844.4(DYNC2I2):c.215C>T (p.Thr72Ile)
NM_052844.4(DYNC2I2):c.218C>A (p.Ala73Asp)
NM_052844.4(DYNC2I2):c.253G>A (p.Ala85Thr)
NM_052844.4(DYNC2I2):c.26C>A (p.Pro9Gln) rs748839336
NM_052844.4(DYNC2I2):c.280C>T (p.Pro94Ser) rs1860501994
NM_052844.4(DYNC2I2):c.295C>G (p.Pro99Ala)
NM_052844.4(DYNC2I2):c.295C>T (p.Pro99Ser)
NM_052844.4(DYNC2I2):c.296C>T (p.Pro99Leu) rs2132156076
NM_052844.4(DYNC2I2):c.309_310inv (p.Asp104Asn)
NM_052844.4(DYNC2I2):c.319A>G (p.Arg107Gly) rs759672549
NM_052844.4(DYNC2I2):c.325G>T (p.Ala109Ser) rs773435636
NM_052844.4(DYNC2I2):c.334C>A (p.Leu112Ile)
NM_052844.4(DYNC2I2):c.337C>T (p.Arg113Trp) rs199920288
NM_052844.4(DYNC2I2):c.347_348delinsTT (p.Glu116Val)
NM_052844.4(DYNC2I2):c.37G>C (p.Ala13Pro) rs1235612644
NM_052844.4(DYNC2I2):c.388C>T (p.His130Tyr) rs765530543
NM_052844.4(DYNC2I2):c.38C>G (p.Ala13Gly)
NM_052844.4(DYNC2I2):c.421G>A (p.Glu141Lys)
NM_052844.4(DYNC2I2):c.424CAG[4] (p.Gln144dup) rs2132155546
NM_052844.4(DYNC2I2):c.428A>C (p.Gln143Pro)
NM_052844.4(DYNC2I2):c.433A>G (p.Met145Val) rs2132155527
NM_052844.4(DYNC2I2):c.436-3C>T
NM_052844.4(DYNC2I2):c.44G>A (p.Ser15Asn) rs752793349
NM_052844.4(DYNC2I2):c.44G>C (p.Ser15Thr)
NM_052844.4(DYNC2I2):c.4G>A (p.Ala2Thr) rs867246942
NM_052844.4(DYNC2I2):c.50G>A (p.Gly17Asp)
NM_052844.4(DYNC2I2):c.529G>T (p.Ala177Ser)
NM_052844.4(DYNC2I2):c.52G>A (p.Val18Ile)
NM_052844.4(DYNC2I2):c.546-3C>T
NM_052844.4(DYNC2I2):c.554A>T (p.His185Leu)
NM_052844.4(DYNC2I2):c.56C>T (p.Ala19Val)
NM_052844.4(DYNC2I2):c.571C>T (p.Leu191Phe)
NM_052844.4(DYNC2I2):c.604C>T (p.Arg202Trp)
NM_052844.4(DYNC2I2):c.629C>G (p.Pro210Arg)
NM_052844.4(DYNC2I2):c.629C>T (p.Pro210Leu) rs780689247
NM_052844.4(DYNC2I2):c.632C>T (p.Ser211Leu)
NM_052844.4(DYNC2I2):c.654C>G (p.Ser218Arg) rs750407126
NM_052844.4(DYNC2I2):c.655G>A (p.Ala219Thr)
NM_052844.4(DYNC2I2):c.671C>T (p.Ala224Val)
NM_052844.4(DYNC2I2):c.683C>T (p.Thr228Met)
NM_052844.4(DYNC2I2):c.697G>A (p.Val233Ile)
NM_052844.4(DYNC2I2):c.703+4A>G
NM_052844.4(DYNC2I2):c.82A>G (p.Ser28Gly)
NM_052844.4(DYNC2I2):c.95C>T (p.Pro32Leu)

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