ClinVar Miner

List of variants studied for congenital fibrosis of extraocular muscles type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001173464.2(KIF21A):c.*472A>G rs11171674 0.29577
NM_001173464.2(KIF21A):c.*237A>G rs11171675 0.29569
NM_017641.3(KIF21A):c.-313G>A rs11835359 0.06971
NM_001173464.2(KIF21A):c.*418A>G rs77242017 0.06929
NM_001173464.2(KIF21A):c.4768C>T (p.Leu1590=) rs2271477 0.05003
NM_001173464.2(KIF21A):c.3711G>T (p.Glu1237Asp) rs75223821 0.04314
NM_001173464.2(KIF21A):c.1880G>T (p.Gly627Val) rs79089655 0.03351
NM_017641.3(KIF21A):c.-165G>T rs111306046 0.03008
NM_001173464.2(KIF21A):c.1335G>T (p.Thr445=) rs61740919 0.01740
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg) rs149219011 0.00766
NM_001173464.2(KIF21A):c.1469+10A>G rs73266501 0.00562
NM_001173464.2(KIF21A):c.2541A>G (p.Lys847=) rs145897823 0.00402
NM_001173464.2(KIF21A):c.*447A>G rs74088336 0.00401
NM_001173464.2(KIF21A):c.4542C>G (p.Ser1514=) rs11171689 0.00359
NM_017641.3(KIF21A):c.-210C>T rs113038492 0.00288
NM_001173464.2(KIF21A):c.3149A>G (p.Asn1050Ser) rs142268373 0.00239
NM_001173464.2(KIF21A):c.1240G>C (p.Gly414Arg) rs78616703 0.00229
NM_001173464.2(KIF21A):c.903T>A (p.Leu301=) rs78806233 0.00220
NM_001173464.2(KIF21A):c.*71C>G rs111409014 0.00191
NM_001173464.2(KIF21A):c.3332T>C (p.Val1111Ala) rs150294289 0.00179
NM_001173464.2(KIF21A):c.*707A>G rs536139187 0.00159
NM_001173464.2(KIF21A):c.1713-11C>G rs142304324 0.00142
NM_001173464.2(KIF21A):c.-19A>G rs139423015 0.00135
NM_001173464.2(KIF21A):c.3118C>T (p.Leu1040=) rs79512568 0.00135
NM_001173464.2(KIF21A):c.3641C>G (p.Pro1214Arg) rs149075970 0.00092
NM_001173464.2(KIF21A):c.*812T>C rs532231850 0.00090
NM_017641.3(KIF21A):c.-240G>C rs562588358 0.00089
NM_017641.3(KIF21A):c.-257C>A rs529777052 0.00088
NM_001173464.2(KIF21A):c.4515T>G (p.Ser1505Arg) rs62000373 0.00087
NM_001173464.2(KIF21A):c.2487+5A>T rs376142046 0.00083
NM_001173464.2(KIF21A):c.*645T>G rs554887830 0.00071
NM_001173464.2(KIF21A):c.*582G>A rs767760567 0.00058
NM_001173464.2(KIF21A):c.*451A>G rs183559712 0.00045
NM_001173464.2(KIF21A):c.975T>C (p.Asp325=) rs143790968 0.00045
NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys) rs142879430 0.00044
NM_017641.3(KIF21A):c.-345G>A rs886049353 0.00044
NM_001173464.2(KIF21A):c.4536T>C (p.Thr1512=) rs144103791 0.00042
NM_001173464.2(KIF21A):c.1038A>G (p.Ala346=) rs148354450 0.00041
NM_001173464.2(KIF21A):c.2684C>T (p.Pro895Leu) rs149718388 0.00039
NM_001173464.2(KIF21A):c.3111C>T (p.Ala1037=) rs145404005 0.00036
NM_001173464.2(KIF21A):c.1776G>A (p.Ser592=) rs143782701 0.00031
NM_001173464.2(KIF21A):c.2660C>T (p.Ala887Val) rs145318959 0.00027
NM_001173464.2(KIF21A):c.4044A>G (p.Lys1348=) rs201297981 0.00022
NM_001173464.2(KIF21A):c.1542G>A (p.Ala514=) rs199973182 0.00021
NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg) rs149328427 0.00021
NM_001173464.2(KIF21A):c.-147C>A rs886049348 0.00016
NM_001173464.2(KIF21A):c.1804-15C>T rs376342352 0.00016
NM_001173464.2(KIF21A):c.-146G>A rs886049347 0.00014
NM_001173464.2(KIF21A):c.2305A>G (p.Thr769Ala) rs200645253 0.00014
NM_001173464.2(KIF21A):c.162A>G (p.Val54=) rs754537818 0.00011
NM_001173464.2(KIF21A):c.44+5G>A rs986920207 0.00009
NM_001173464.2(KIF21A):c.4562T>G (p.Met1521Arg) rs142038295 0.00009
NM_017641.3(KIF21A):c.-339C>A rs886049352 0.00009
NM_001173464.2(KIF21A):c.1851G>A (p.Glu617=) rs147473938 0.00008
NM_001173464.2(KIF21A):c.3320-4A>T rs371915160 0.00006
NM_001173464.2(KIF21A):c.4277C>T (p.Thr1426Met) rs781214904 0.00006
NM_001173464.2(KIF21A):c.825C>T (p.Leu275=) rs143876096 0.00006
NM_001173464.2(KIF21A):c.1886G>T (p.Ser629Ile) rs765856120 0.00004
NM_001173464.2(KIF21A):c.*65G>A rs888970061 0.00003
NM_001173464.2(KIF21A):c.2310+10A>G rs201113357 0.00003
NM_001173464.2(KIF21A):c.568G>A (p.Val190Ile) rs141530856 0.00003
NM_001173464.2(KIF21A):c.1160A>G (p.Asn387Ser) rs745692702 0.00002
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) rs1458182449 0.00002
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys) rs749644826 0.00002
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr) rs748150530 0.00002
NM_001173464.2(KIF21A):c.*326T>A rs886049337 0.00001
NM_001173464.2(KIF21A):c.*531T>C rs1479577907 0.00001
NM_001173464.2(KIF21A):c.-31C>T rs554379231 0.00001
NM_001173464.2(KIF21A):c.1104T>G (p.Ala368=) rs187327535 0.00001
NM_001173464.2(KIF21A):c.268-14G>T rs762377796 0.00001
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) rs886049344 0.00001
NM_001173464.2(KIF21A):c.3842G>A (p.Arg1281His) rs747176706 0.00001
NM_001173464.2(KIF21A):c.3960-11C>T rs201115347 0.00001
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) rs749290916 0.00001
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) rs886049339 0.00001
NM_001173464.2(KIF21A):c.578G>A (p.Arg193His) rs770064077 0.00001
NM_001173464.2(KIF21A):c.681T>C (p.His227=) rs753495640 0.00001
NM_017641.3(KIF21A):c.-245C>T rs886049350 0.00001
NM_017641.3(KIF21A):c.-392G>C rs886049354 0.00001
NM_001173464.2(KIF21A):c.*1010T>C rs886049332
NM_001173464.2(KIF21A):c.*1022A>T rs886049331
NM_001173464.2(KIF21A):c.*1157A>T rs886049330
NM_001173464.2(KIF21A):c.*211C>G rs886049338
NM_001173464.2(KIF21A):c.*366C>T rs1942069691
NM_001173464.2(KIF21A):c.*690T>C rs886049336
NM_001173464.2(KIF21A):c.*935A>G rs886049333
NM_001173464.2(KIF21A):c.-41G>A rs886049346
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr) rs121912588
NM_001173464.2(KIF21A):c.10G>A (p.Ala4Thr)
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) rs375541289
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr) rs886049345
NM_001173464.2(KIF21A):c.1458C>A (p.Ile486=) rs200512673
NM_001173464.2(KIF21A):c.1674-1G>A
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) rs1947443550
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) rs1227646139
NM_001173464.2(KIF21A):c.2371del (p.Arg791fs)
NM_001173464.2(KIF21A):c.2418+2T>C rs1565839016
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe) rs779688115
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) rs764601859
NM_001173464.2(KIF21A):c.2492C>T (p.Thr831Met) rs764601859
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)
NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu) rs1592198426
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=) rs148166854
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) rs886049343
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) rs121912589
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg) rs121912590
NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile) rs267607200
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) rs121912586
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr) rs121912587
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile) rs1946526630
NM_001173464.2(KIF21A):c.3301C>A (p.Leu1101Ile)
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) rs1316892081
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) rs886049342
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) rs1565724893
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) rs1565724702
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) rs1944493997
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) rs886049341
NM_001173464.2(KIF21A):c.44+15C>G rs1478935702
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) rs886049340
NM_001173464.2(KIF21A):c.4602_4606del (p.Thr1535fs)
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) rs1942967439
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu) rs373406994
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter) rs267603451
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
NM_006086.4(TUBB3):c.508G>A (p.Val170Met) rs1344725531
NM_017641.3(KIF21A):c.-195A>G rs532130145
NM_017641.3(KIF21A):c.-203C>G rs886049349
NM_017641.3(KIF21A):c.-411G>A rs145372857

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