ClinVar Miner

List of variants in gene OFD1 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_13753171)_(13762658_?)del
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup
NM_003611.2(OFD1):c.(?_-311)_1542+?del
NM_003611.2(OFD1):c.(?_-359)_(*253_?)del
NM_003611.2(OFD1):c.(?_-360)_828+?del
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.2(OFD1):c.1222-?_(*_?)del
NM_003611.2(OFD1):c.2261-?_2387+?del
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) rs312262823
NM_003611.2(OFD1):c.382-?_412+?del
NM_003611.2(OFD1):c.518-?_935+?del
NM_003611.2(OFD1):c.936-?_1129+?del
NM_003611.2:c.1051-2>G
NM_003611.2:c.1056C>G
NM_003611.2:c.2388+1G>C
NM_003611.3(OFD1):c.-296G>T rs2285635
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.3(OFD1):c.1056-2A>T rs312262861
NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs) rs1555904480
NM_003611.3(OFD1):c.1071_1078delinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) rs312262862
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003611.3(OFD1):c.111+2T>C rs312262809
NM_003611.3(OFD1):c.111+3A>G rs312262804
NM_003611.3(OFD1):c.111G>A (p.Lys37=) rs312262808
NM_003611.3(OFD1):c.111G>C (p.Lys37Asn) rs312262808
NM_003611.3(OFD1):c.112-2del rs1555900675
NM_003611.3(OFD1):c.1130-22_1130-19del rs312262865
NM_003611.3(OFD1):c.1178dup (p.Glu394fs) rs312262866
NM_003611.3(OFD1):c.1185del (p.Glu395fs) rs312262867
NM_003611.3(OFD1):c.1189_1192AATC[1] (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1220_1221+1del rs312262869
NM_003611.3(OFD1):c.1221+1del rs312262870
NM_003611.3(OFD1):c.1263_1267AAAAC[1] (p.Gln423fs) rs312262871
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr)
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.1318del (p.Leu439_Leu440insTer) rs312262872
NM_003611.3(OFD1):c.1319del (p.Leu440fs) rs312262873
NM_003611.3(OFD1):c.1322_1326del (p.Lys441fs) rs312262874
NM_003611.3(OFD1):c.1323_1326del (p.Glu442fs) rs312262875
NM_003611.3(OFD1):c.1334_1335del (p.Leu445fs) rs312262876
NM_003611.3(OFD1):c.1358T>A (p.Leu453Ter) rs312262877
NM_003611.3(OFD1):c.1360_1363del (p.Leu454fs) rs312262878
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.3(OFD1):c.1409del (p.Asn470fs) rs312262879
NM_003611.3(OFD1):c.1420C>T (p.Gln474Ter) rs312262880
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) rs1189655158
NM_003611.3(OFD1):c.1445_1446del (p.Phe482fs) rs312262881
NM_003611.3(OFD1):c.1452_1458del (p.Lys484fs) rs312262882
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121
NM_003611.3(OFD1):c.147dup (p.His50fs) rs886039858
NM_003611.3(OFD1):c.1587del (p.Ala530fs) rs312262883
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs) rs1569145145
NM_003611.3(OFD1):c.1612C>T (p.Gln538Ter) rs886039864
NM_003611.3(OFD1):c.162_166del (p.Ser54fs) rs312262811
NM_003611.3(OFD1):c.1654+8A>G rs200767363
NM_003611.3(OFD1):c.1654+9C>T rs200007045
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596
NM_003611.3(OFD1):c.1757del (p.Ser586fs) rs312262884
NM_003611.3(OFD1):c.1785A>G (p.Lys595=)
NM_003611.3(OFD1):c.1821del (p.Ile608fs) rs312262885
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp) rs1060500184
NM_003611.3(OFD1):c.1977_1978CT[1] (p.Ser660fs) rs312262887
NM_003611.3(OFD1):c.1991dup (p.Leu665fs) rs886039865
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) rs370183911
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.3(OFD1):c.2044dup (p.Ile682fs) rs312262888
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2056del (p.Ser686fs) rs312262889
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.3(OFD1):c.2176del (p.Arg726fs) rs312262891
NM_003611.3(OFD1):c.2177G>A (p.Arg726His)
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr)
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) rs1555900734
NM_003611.3(OFD1):c.221C>T (p.Ser74Phe) rs312262812
NM_003611.3(OFD1):c.224A>C (p.Asn75Thr) rs312262813
NM_003611.3(OFD1):c.2261-1G>T rs312262892
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.3(OFD1):c.2349del (p.Ile784fs) rs312262893
NM_003611.3(OFD1):c.235G>A (p.Ala79Thr) rs312262814
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.241C>G (p.His81Asp) rs312262815
NM_003611.3(OFD1):c.243C>G (p.His81Gln) rs312262816
NM_003611.3(OFD1):c.247C>T (p.Gln83Ter) rs312262817
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) rs1569163323
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.274T>C (p.Ser92Pro) rs312262819
NM_003611.3(OFD1):c.275_276del (p.Ser92fs) rs886039859
NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661
NM_003611.3(OFD1):c.290A>G (p.Glu97Gly) rs312262820
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_003611.3(OFD1):c.312+3_312+9del rs397507557
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
NM_003611.3(OFD1):c.337C>T (p.Gln113Ter) rs312262825
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn) rs1555901137
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) rs202103941
NM_003611.3(OFD1):c.363del (p.Ser122fs) rs1555901146
NM_003611.3(OFD1):c.372C>G (p.Tyr124Ter) rs312262826
NM_003611.3(OFD1):c.382-2A>G rs312262829
NM_003611.3(OFD1):c.382-3C>G rs312262828
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.411del (p.Gly138fs) rs312262831
NM_003611.3(OFD1):c.412+1G>T rs1555901169
NM_003611.3(OFD1):c.412+2del rs312262832
NM_003611.3(OFD1):c.412G>A (p.Gly138Ser) rs312262827
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003611.3(OFD1):c.422T>G (p.Met141Arg) rs886039860
NM_003611.3(OFD1):c.431T>A (p.Leu144Ter) rs312262835
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_003611.3(OFD1):c.43_44del (p.Gln16fs) rs312262806
NM_003611.3(OFD1):c.454C>T (p.Gln152Ter) rs312262836
NM_003611.3(OFD1):c.506_507GA[1] (p.Asp170fs) rs886039861
NM_003611.3(OFD1):c.518-1G>A rs886039862
NM_003611.3(OFD1):c.52G>T (p.Glu18Ter) rs886039857
NM_003611.3(OFD1):c.541dup (p.Asp181fs) rs886039863
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.594_598del (p.Lys199_Leu200insTer) rs312262837
NM_003611.3(OFD1):c.602del (p.Asn201fs) rs312262838
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.3(OFD1):c.612_613GA[2] (p.Glu206fs) rs312262840
NM_003611.3(OFD1):c.619_624del (p.Ile207_Glu208del) rs312262839
NM_003611.3(OFD1):c.628C>T (p.Gln210Ter) rs312262841
NM_003611.3(OFD1):c.62_63insT (p.Lys21fs) rs886039856
NM_003611.3(OFD1):c.653del (p.Lys218fs) rs312262842
NM_003611.3(OFD1):c.654+29G>A rs312262805
NM_003611.3(OFD1):c.654+2_654+4del rs397507558
NM_003611.3(OFD1):c.65dup (p.Leu23fs) rs312262807
NM_003611.3(OFD1):c.675del (p.Glu226fs) rs312262844
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_003611.3(OFD1):c.707_719del (p.Lys236fs) rs312262846
NM_003611.3(OFD1):c.709_710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.712del (p.Tyr238fs) rs312262849
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.790dup (p.Glu264fs) rs312262850
NM_003611.3(OFD1):c.823C>T (p.Gln275Ter) rs312262851
NM_003611.3(OFD1):c.839_840del (p.Lys280fs) rs312262852
NM_003611.3(OFD1):c.840_844del (p.Lys280fs) rs312262853
NM_003611.3(OFD1):c.843_844del (p.Glu281fs) rs312262855
NM_003611.3(OFD1):c.858del (p.Arg286fs) rs312262856
NM_003611.3(OFD1):c.871A>T (p.Lys291Ter) rs312262857
NM_003611.3(OFD1):c.875_876AT[1] (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_003611.3(OFD1):c.896_897GA[3] (p.Ala301fs) rs312262859
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_003611.3(OFD1):c.919del (p.Val307fs) rs312262860
NM_003611.3(OFD1):c.936-2A>G rs199902986
NP_003602.1:p.Ser620Cysfs*8
OFD1:c.653-6A>G
Single allele

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