ClinVar Miner

List of variants in gene DYNC2I1 reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_018051.5(DYNC2I1):c.176A>G (p.Asp59Gly) rs187908946 0.00098
NM_018051.5(DYNC2I1):c.451C>T (p.Arg151Trp) rs75914977 0.00042
NM_018051.5(DYNC2I1):c.2398G>A (p.Ala800Thr) rs115070314 0.00041
NM_018051.5(DYNC2I1):c.407A>C (p.Gln136Pro) rs781030406 0.00023
NM_018051.5(DYNC2I1):c.1826C>T (p.Ala609Val) rs192753686 0.00021
NM_018051.5(DYNC2I1):c.1726G>A (p.Asp576Asn) rs201190743 0.00019
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347 0.00019
NM_018051.5(DYNC2I1):c.1676C>T (p.Pro559Leu) rs187658316 0.00018
NM_018051.5(DYNC2I1):c.1315C>G (p.Gln439Glu) rs372622058 0.00016
NM_018051.5(DYNC2I1):c.1573A>G (p.Lys525Glu) rs777679941 0.00015
NM_018051.5(DYNC2I1):c.2540G>A (p.Gly847Asp) rs372734939 0.00014
NM_018051.5(DYNC2I1):c.1654A>G (p.Arg552Gly) rs771427947 0.00011
NM_018051.5(DYNC2I1):c.2825C>T (p.Ala942Val) rs371334329 0.00011
NM_018051.5(DYNC2I1):c.3112C>T (p.Arg1038Trp) rs758415572 0.00011
NM_018051.5(DYNC2I1):c.389G>A (p.Arg130Gln) rs374765133 0.00011
NM_018051.5(DYNC2I1):c.990+3A>T rs374608321 0.00011
NM_018051.5(DYNC2I1):c.2905G>A (p.Val969Met) rs377727599 0.00009
NM_018051.5(DYNC2I1):c.2245A>T (p.Thr749Ser) rs755638947 0.00007
NM_018051.5(DYNC2I1):c.2372-3C>T rs373063403 0.00006
NM_018051.5(DYNC2I1):c.2029G>A (p.Val677Ile) rs767670522 0.00005
NM_018051.5(DYNC2I1):c.2317A>G (p.Thr773Ala) rs770249657 0.00005
NM_018051.5(DYNC2I1):c.731A>G (p.Lys244Arg) rs755850270 0.00005
NM_018051.5(DYNC2I1):c.1293C>T (p.Gly431=) rs369015842 0.00004
NM_018051.5(DYNC2I1):c.1609G>A (p.Glu537Lys) rs537240153 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_018051.5(DYNC2I1):c.2464G>A (p.Ala822Thr) rs566913816 0.00004
NM_018051.5(DYNC2I1):c.2485+5C>A rs771294563 0.00004
NM_018051.5(DYNC2I1):c.2512C>G (p.Leu838Val) rs770020503 0.00004
NM_018051.5(DYNC2I1):c.2767C>T (p.Pro923Ser) rs770977639 0.00004
NM_018051.5(DYNC2I1):c.986G>A (p.Arg329Gln) rs777602096 0.00004
NM_018051.5(DYNC2I1):c.1057G>A (p.Val353Met) rs201238212 0.00003
NM_018051.5(DYNC2I1):c.1438C>T (p.Arg480Trp) rs370385731 0.00003
NM_018051.5(DYNC2I1):c.1484G>A (p.Arg495Gln) rs772956452 0.00003
NM_018051.5(DYNC2I1):c.2167G>A (p.Val723Ile) rs111510513 0.00003
NM_018051.5(DYNC2I1):c.445C>T (p.Arg149Cys) rs545206396 0.00003
NM_018051.5(DYNC2I1):c.49G>A (p.Asp17Asn) rs374477653 0.00003
NM_018051.5(DYNC2I1):c.2660A>G (p.His887Arg) rs746483898 0.00002
NM_018051.5(DYNC2I1):c.2933A>G (p.Asn978Ser) rs780146826 0.00002
NM_018051.5(DYNC2I1):c.573+6C>T rs913915593 0.00002
NM_018051.5(DYNC2I1):c.104A>G (p.Lys35Arg) rs774295782 0.00001
NM_018051.5(DYNC2I1):c.1139A>G (p.Asp380Gly) rs767594582 0.00001
NM_018051.5(DYNC2I1):c.1228C>G (p.Leu410Val) rs866385885 0.00001
NM_018051.5(DYNC2I1):c.1461-13A>G rs749505270 0.00001
NM_018051.5(DYNC2I1):c.1628A>G (p.Asp543Gly) rs1585131344 0.00001
NM_018051.5(DYNC2I1):c.1642G>A (p.Glu548Lys) rs761082389 0.00001
NM_018051.5(DYNC2I1):c.1882A>G (p.Ser628Gly) rs759364238 0.00001
NM_018051.5(DYNC2I1):c.1993G>A (p.Glu665Lys) rs764530886 0.00001
NM_018051.5(DYNC2I1):c.2121G>T (p.Leu707Phe) rs766537162 0.00001
NM_018051.5(DYNC2I1):c.2822C>T (p.Ser941Phe) rs1585253516 0.00001
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs) rs748645101 0.00001
NM_018051.5(DYNC2I1):c.3077C>T (p.Ala1026Val) rs370850399 0.00001
NM_018051.5(DYNC2I1):c.3169G>A (p.Ala1057Thr) rs1162389472 0.00001
NM_018051.5(DYNC2I1):c.436C>A (p.Gln146Lys) rs1251160543 0.00001
NM_018051.5(DYNC2I1):c.574-10T>A rs188181596 0.00001
NM_018051.5(DYNC2I1):c.633C>T (p.Gly211=) rs375240436 0.00001
NM_018051.5(DYNC2I1):c.751A>C (p.Lys251Gln) rs1200188970 0.00001
NC_000007.13:g.(?_158649427)_(158738470_?)dup
NC_000007.13:g.(?_158662526)_(158727260_?)dup
NC_000007.13:g.(?_158662526)_(158738470_?)dup
NC_000007.13:g.(?_158672355)_(158672700_?)del
NC_000007.13:g.(?_158711411)_(158738470_?)dup
NC_000007.13:g.(?_158734596)_(158738470_?)dup
NC_000007.14:g.(?_158926167)_(158927063_?)del
NM_018051.5(DYNC2I1):c.1000G>A (p.Glu334Lys)
NM_018051.5(DYNC2I1):c.1003G>A (p.Glu335Lys)
NM_018051.5(DYNC2I1):c.1026G>C (p.Lys342Asn)
NM_018051.5(DYNC2I1):c.1084T>G (p.Leu362Val)
NM_018051.5(DYNC2I1):c.116A>G (p.Lys39Arg) rs528452983
NM_018051.5(DYNC2I1):c.1189A>T (p.Asn397Tyr)
NM_018051.5(DYNC2I1):c.1221A>C (p.Glu407Asp) rs1846346410
NM_018051.5(DYNC2I1):c.1267A>G (p.Ile423Val)
NM_018051.5(DYNC2I1):c.1483C>T (p.Arg495Trp)
NM_018051.5(DYNC2I1):c.1505C>T (p.Ser502Leu) rs776188298
NM_018051.5(DYNC2I1):c.1519C>G (p.Leu507Val) rs529737662
NM_018051.5(DYNC2I1):c.1600C>G (p.Gln534Glu)
NM_018051.5(DYNC2I1):c.1604G>A (p.Cys535Tyr) rs2129484911
NM_018051.5(DYNC2I1):c.162G>C (p.Glu54Asp)
NM_018051.5(DYNC2I1):c.1633C>G (p.Gln545Glu)
NM_018051.5(DYNC2I1):c.1637C>T (p.Thr546Met) rs1847645148
NM_018051.5(DYNC2I1):c.1703G>A (p.Gly568Asp)
NM_018051.5(DYNC2I1):c.1718A>G (p.Asp573Gly)
NM_018051.5(DYNC2I1):c.1721C>T (p.Thr574Ile) rs374402136
NM_018051.5(DYNC2I1):c.1744A>G (p.Lys582Glu)
NM_018051.5(DYNC2I1):c.1791+16A>G
NM_018051.5(DYNC2I1):c.1916T>C (p.Leu639Pro) rs761412635
NM_018051.5(DYNC2I1):c.1934CCT[1] (p.Ser646del) rs774798770
NM_018051.5(DYNC2I1):c.2024A>C (p.Lys675Thr)
NM_018051.5(DYNC2I1):c.2099C>T (p.Thr700Met)
NM_018051.5(DYNC2I1):c.2134C>G (p.Leu712Val)
NM_018051.5(DYNC2I1):c.2135T>C (p.Leu712Pro) rs2129486673
NM_018051.5(DYNC2I1):c.2143G>A (p.Gly715Arg)
NM_018051.5(DYNC2I1):c.2146A>T (p.Thr716Ser)
NM_018051.5(DYNC2I1):c.2153A>G (p.His718Arg) rs1400146732
NM_018051.5(DYNC2I1):c.2172G>C (p.Trp724Cys) rs1459822084
NM_018051.5(DYNC2I1):c.2236C>T (p.Arg746Trp)
NM_018051.5(DYNC2I1):c.2256C>T (p.Thr752=)
NM_018051.5(DYNC2I1):c.2257+5del rs1849333929
NM_018051.5(DYNC2I1):c.2257G>A (p.Asp753Asn)
NM_018051.5(DYNC2I1):c.2279A>C (p.Asn760Thr)
NM_018051.5(DYNC2I1):c.2318C>T (p.Thr773Met)
NM_018051.5(DYNC2I1):c.2347C>T (p.Leu783Phe)
NM_018051.5(DYNC2I1):c.2450C>T (p.Pro817Leu)
NM_018051.5(DYNC2I1):c.2461A>G (p.Ile821Val)
NM_018051.5(DYNC2I1):c.2638A>G (p.Thr880Ala) rs1850519978
NM_018051.5(DYNC2I1):c.2653A>G (p.Ile885Val)
NM_018051.5(DYNC2I1):c.2656A>G (p.Ser886Gly)
NM_018051.5(DYNC2I1):c.2663G>A (p.Gly888Asp) rs1850547827
NM_018051.5(DYNC2I1):c.2666C>T (p.Thr889Ile)
NM_018051.5(DYNC2I1):c.2719A>G (p.Ile907Val)
NM_018051.5(DYNC2I1):c.2726C>T (p.Pro909Leu)
NM_018051.5(DYNC2I1):c.2771T>C (p.Ile924Thr)
NM_018051.5(DYNC2I1):c.2872A>G (p.Thr958Ala)
NM_018051.5(DYNC2I1):c.2885G>T (p.Trp962Leu) rs774062652
NM_018051.5(DYNC2I1):c.2926A>G (p.Thr976Ala) rs1851430228
NM_018051.5(DYNC2I1):c.295C>T (p.Arg99Trp)
NM_018051.5(DYNC2I1):c.296G>C (p.Arg99Pro)
NM_018051.5(DYNC2I1):c.2999A>T (p.Asn1000Ile) rs749324450
NM_018051.5(DYNC2I1):c.3019G>A (p.Ala1007Thr)
NM_018051.5(DYNC2I1):c.3020C>T (p.Ala1007Val)
NM_018051.5(DYNC2I1):c.3086C>T (p.Ser1029Phe) rs1331796469
NM_018051.5(DYNC2I1):c.3136G>A (p.Glu1046Lys)
NM_018051.5(DYNC2I1):c.3177G>A (p.Trp1059Ter)
NM_018051.5(DYNC2I1):c.3184G>A (p.Gly1062Arg)
NM_018051.5(DYNC2I1):c.35C>T (p.Thr12Ile)
NM_018051.5(DYNC2I1):c.418C>G (p.His140Asp) rs1315103377
NM_018051.5(DYNC2I1):c.470C>T (p.Ala157Val)
NM_018051.5(DYNC2I1):c.485G>T (p.Arg162Leu)
NM_018051.5(DYNC2I1):c.500T>A (p.Val167Glu)
NM_018051.5(DYNC2I1):c.625G>C (p.Glu209Gln)
NM_018051.5(DYNC2I1):c.629_630delinsGC (p.Glu210Gly)
NM_018051.5(DYNC2I1):c.667C>G (p.Arg223Gly) rs760704544
NM_018051.5(DYNC2I1):c.691A>C (p.Ser231Arg)
NM_018051.5(DYNC2I1):c.701G>T (p.Arg234Met)
NM_018051.5(DYNC2I1):c.762A>C (p.Glu254Asp)
NM_018051.5(DYNC2I1):c.785AAG[1] (p.Glu263del)
NM_018051.5(DYNC2I1):c.822C>A (p.Ser274Arg) rs2129478812
NM_018051.5(DYNC2I1):c.829G>T (p.Asp277Tyr) rs2129478814
NM_018051.5(DYNC2I1):c.845C>T (p.Ser282Leu)
NM_018051.5(DYNC2I1):c.868A>G (p.Arg290Gly)
NM_018051.5(DYNC2I1):c.884G>C (p.Gly295Ala)
NM_018051.5(DYNC2I1):c.884G>T (p.Gly295Val)
NM_018051.5(DYNC2I1):c.923G>T (p.Gly308Val)
NM_018051.5(DYNC2I1):c.925A>T (p.Thr309Ser)
NM_018051.5(DYNC2I1):c.955A>G (p.Arg319Gly)

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