ClinVar Miner

List of variants in gene OFD1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
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Total variants: 124
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HGVS dbSNP
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
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.1056-2A>T rs312262861
NM_003611.2(OFD1):c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) rs312262862
NM_003611.2(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.2(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003611.2(OFD1):c.111+2T>C rs312262809
NM_003611.2(OFD1):c.111G>A (p.Lys37=) rs312262808
NM_003611.2(OFD1):c.111G>C (p.Lys37Asn) rs312262808
NM_003611.2(OFD1):c.1130-22_1130-19delAATT rs312262865
NM_003611.2(OFD1):c.1178dupA (p.Glu394Glyfs) rs312262866
NM_003611.2(OFD1):c.1185delA (p.Glu395Aspfs) rs312262867
NM_003611.2(OFD1):c.1193_1196delAATC (p.Gln398Leufs) rs312262868
NM_003611.2(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.2(OFD1):c.1220_1221+1delAGG rs312262869
NM_003611.2(OFD1):c.1221+1delG rs312262870
NM_003611.2(OFD1):c.1222-?_(*_?)del
NM_003611.2(OFD1):c.1268_1272delAAAAC (p.Gln423Profs) rs312262871
NM_003611.2(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.2(OFD1):c.1313C>G (p.Ser438Ter)
NM_003611.2(OFD1):c.1318delC (p.Leu440Terfs) rs312262872
NM_003611.2(OFD1):c.1319delT (p.Leu440Glnfs) rs312262873
NM_003611.2(OFD1):c.1322_1326delAAGAA (p.Lys441Argfs) rs312262874
NM_003611.2(OFD1):c.1323_1326delAGAA (p.Glu442Argfs) rs312262875
NM_003611.2(OFD1):c.1334_1335delTG (p.Leu445Argfs) rs312262876
NM_003611.2(OFD1):c.1358T>A (p.Leu453Ter) rs312262877
NM_003611.2(OFD1):c.1360_1363delCTTA (p.Leu454Asnfs) rs312262878
NM_003611.2(OFD1):c.1409delA (p.Asn470Thrfs) rs312262879
NM_003611.2(OFD1):c.1420C>T (p.Gln474Ter) rs312262880
NM_003611.2(OFD1):c.1445_1446delTT (p.Phe482Serfs) rs312262881
NM_003611.2(OFD1):c.1452_1458delAGAACTA (p.Lys484Asnfs) rs312262882
NM_003611.2(OFD1):c.1587delA (p.Ala530Leufs) rs312262883
NM_003611.2(OFD1):c.1612C>T (p.Gln538*) rs886039864
NM_003611.2(OFD1):c.162_166delTGGAG (p.Ser54Argfs) rs312262811
NM_003611.2(OFD1):c.1757delG (p.Ser586Metfs) rs312262884
NM_003611.2(OFD1):c.1821delG (p.Ile608Serfs) rs312262885
NM_003611.2(OFD1):c.1887_1888insAT (p.Asn630Ilefs) rs312262886
NM_003611.2(OFD1):c.1979_1980delCT (p.Ser660Cysfs) rs312262887
NM_003611.2(OFD1):c.1990dupC (p.Leu665Thrfs*35) rs886039865
NM_003611.2(OFD1):c.2044dupA (p.Ile682Asnfs) rs312262888
NM_003611.2(OFD1):c.2056delT (p.Ser686Profs) rs312262889
NM_003611.2(OFD1):c.2126_2129delAAAG (p.Glu709Glyfs) rs312262890
NM_003611.2(OFD1):c.2176delC (p.Arg726Alafs) rs312262891
NM_003611.2(OFD1):c.221C>T (p.Ser74Phe) rs312262812
NM_003611.2(OFD1):c.224A>C (p.Asn75Thr) rs312262813
NM_003611.2(OFD1):c.2261-1G>T rs312262892
NM_003611.2(OFD1):c.2261-?_2387+?del
NM_003611.2(OFD1):c.2349delC (p.Ile784Serfs) rs312262893
NM_003611.2(OFD1):c.235G>A (p.Ala79Thr) rs312262814
NM_003611.2(OFD1):c.241C>G (p.His81Asp) rs312262815
NM_003611.2(OFD1):c.243C>G (p.His81Gln) rs312262816
NM_003611.2(OFD1):c.247C>T (p.Gln83Ter) rs312262817
NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.2(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.2(OFD1):c.274T>C (p.Ser92Pro) rs312262819
NM_003611.2(OFD1):c.275_276delCT (p.Ser92Cyssf*24) rs886039859
NM_003611.2(OFD1):c.2789_2793delTAAAA (p.Ile930Lysfs) rs797044945
NM_003611.2(OFD1):c.290A>G (p.Glu97Gly) rs312262820
NM_003611.2(OFD1):c.294_312delTGGTTTGGCAAAAGAAAAG (p.Ser98Argfs) rs312262821
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.2(OFD1):c.312+2_312+8del rs397507557
NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) rs312262823
NM_003611.2(OFD1):c.337C>T (p.Gln113Ter) rs312262825
NM_003611.2(OFD1):c.344T>A (p.Ile115Asn) rs1555901137
NM_003611.2(OFD1):c.363delC (p.Ser122Valfs) rs1555901146
NM_003611.2(OFD1):c.372C>G (p.Tyr124Ter) rs312262826
NM_003611.2(OFD1):c.382-2A>G rs312262829
NM_003611.2(OFD1):c.382-3C>G rs312262828
NM_003611.2(OFD1):c.382-?_412+?del
NM_003611.2(OFD1):c.400_403delGAAA (p.Glu134Ilefs) rs312262830
NM_003611.2(OFD1):c.411delA (p.Gly138Valfs) rs312262831
NM_003611.2(OFD1):c.412+2delT rs312262832
NM_003611.2(OFD1):c.412G>A (p.Gly138Ser) rs312262827
NM_003611.2(OFD1):c.413-10T>G rs312262833
NM_003611.2(OFD1):c.422T>G (p.Met141Arg) rs886039860
NM_003611.2(OFD1):c.431T>A (p.Leu144Ter) rs312262835
NM_003611.2(OFD1):c.431dupT (p.Leu144Phefs) rs312262834
NM_003611.2(OFD1):c.43_44delAG (p.Gln16Argfs) rs312262806
NM_003611.2(OFD1):c.454C>T (p.Gln152Ter) rs312262836
NM_003611.2(OFD1):c.508_509delGA (p.Asp170Phefs*4) rs886039861
NM_003611.2(OFD1):c.518-1G>A rs886039862
NM_003611.2(OFD1):c.518-?_935+?del
NM_003611.2(OFD1):c.52G>T (p.Glu18*) rs886039857
NM_003611.2(OFD1):c.541dupG (p.Asp181Glyfs*22) rs886039863
NM_003611.2(OFD1):c.560dup (p.Tyr187Terfs) rs1555902640
NM_003611.2(OFD1):c.594_598delAAAGC (p.Leu200Terfs) rs312262837
NM_003611.2(OFD1):c.602delA (p.Asn201Metfs) rs312262838
NM_003611.2(OFD1):c.615_620delAGAAAT (p.Ile207_Glu208del) rs312262839
NM_003611.2(OFD1):c.616_617delGA (p.Glu206Asnfs) rs312262840
NM_003611.2(OFD1):c.628C>T (p.Gln210Ter) rs312262841
NM_003611.2(OFD1):c.62_63insT (p.Lys21Aspfs*8) rs886039856
NM_003611.2(OFD1):c.653delA (p.Lys218Serfs) rs312262842
NM_003611.2(OFD1):c.654+2_654+4delTAA rs397507558
NM_003611.2(OFD1):c.65dupA (p.Leu23Alafs) rs312262807
NM_003611.2(OFD1):c.675delC (p.Glu226Argfs) rs312262844
NM_003611.2(OFD1):c.688_705del18 (p.Ile230_Lys235del) rs398122866
NM_003611.2(OFD1):c.707_719delAAAAGTATGAAAA (p.Lys236Argfs) rs312262846
NM_003611.2(OFD1):c.709_710delAA (p.Lys237Valfs) rs312262845
NM_003611.2(OFD1):c.710delA (p.Lys237Serfs) rs312262845
NM_003611.2(OFD1):c.710dupA (p.Tyr238Valfs) rs312262845
NM_003611.2(OFD1):c.712delT (p.Tyr238Metfs) rs312262849
NM_003611.2(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.2(OFD1):c.790dupG (p.Glu264Glyfs) rs312262850
NM_003611.2(OFD1):c.823C>T (p.Gln275Ter) rs312262851
NM_003611.2(OFD1):c.837_841delAAAAG (p.Lys280Asnfs) rs312262853
NM_003611.2(OFD1):c.839_840delAA (p.Lys280Argfs) rs312262852
NM_003611.2(OFD1):c.843_844delAA (p.Glu281Aspfs) rs312262855
NM_003611.2(OFD1):c.858delG (p.Arg286Serfs) rs312262856
NM_003611.2(OFD1):c.871A>T (p.Lys291Ter) rs312262857
NM_003611.2(OFD1):c.877_878delAT (p.Met293Glyfs) rs312262858
NM_003611.2(OFD1):c.915_916delAA (p.Arg306Serfs)
NM_003611.2(OFD1):c.919delG (p.Val307Leufs) rs312262860
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.147dup (p.His50Alafs) rs886039858
NM_003611.3(OFD1):c.2123_2126dup (p.Asn711Lysfs) rs312262890
NM_003611.3(OFD1):c.898_899dup (p.Ala301Lysfs) rs312262859
NP_003602.1:p.Ser620Cysfs*8

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