ClinVar Miner

List of variants reported as pathogenic by Department of Medical Genetics, Oslo University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_015373.4(CBY1):c.189_190del (p.Gly64_Val65insTer) rs747514855 0.00002
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter) rs41293477 0.00001
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9118-2A>G rs81002862 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter) rs80357118 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3
GRCh37/hg19 17p13.3(chr17:84287-2468384)x1
GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1
GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1
NC_000013.10:g.(32890665_32893213)_(32893463_32899212)del
NC_000013.10:g.(32937671_32944538)_(32950929_32953453)del
NC_000013.10:g.(32944695_32945092)_(32945238_32950806)del
NC_000017.10:g.(41219713_41222944)_(41267797_41276033)del
NC_000017.10:g.(41228632_41234420)_(41251898_41256138)del
NC_000017.10:g.(41228632_41234420)_(41276114_?)del
NC_000017.10:g.(41249307_41251791)_(41251898_41256138)del
NC_000017.10:g.(41251852_41256215)_(41258551_41267742)del
NC_000017.10:g.(41258551_41267742)_(41276114_?)del
NC_000017.11:g.(43047704_43049120)_(43049195_43051062)del
NG_005905.2:g.(154652_160848)_(172307_?)del
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1429del (p.His477fs) rs1555281909
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) rs80358434
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter) rs398122729
NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter) rs876659627
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter) rs201523522
NM_000059.4(BRCA2):c.171del (p.Asn56_Tyr57insTer) rs1555280367
NM_000059.4(BRCA2):c.1905_1909del (p.Asp635fs) rs1555282156
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter) rs398122735
NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter) rs397507617
NM_000059.4(BRCA2):c.2156_2159del (p.Asn719fs) rs1555282489
NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer) rs276174826
NM_000059.4(BRCA2):c.316+1G>T rs397507303
NM_000059.4(BRCA2):c.3307_3308dup (p.Leu1103fs) rs1555283160
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3596_3599del (p.Asp1199fs) rs886040484
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer) rs1555283373
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.407del (p.Asn136fs) rs80359425
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter) rs80358658
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.4710del (p.Glu1571fs) rs1555283915
NM_000059.4(BRCA2):c.4794_4797del (p.Asn1599fs) rs747418290
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs) rs587782854
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5157_5161del (p.Asn1719fs) rs80359488
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5577del (p.Lys1861_Val1862insTer) rs397507355
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.6034dup (p.Ser2012fs) rs397507823
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs) rs398122546
NM_000059.4(BRCA2):c.6085_6089del (p.Glu2029fs) rs886040635
NM_000059.4(BRCA2):c.614del (p.Ser205fs) rs1555281103
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs) rs80359577
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6611dup (p.Val2205fs) rs1135401915
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7234del (p.Thr2412fs) rs1135401917
NM_000059.4(BRCA2):c.7617+1G>A rs397507922
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs) rs80359672
NM_000059.4(BRCA2):c.7680dup (p.Gln2561fs) rs80359673
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7829dup (p.Asp2611fs) rs1555286826
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.8090_8105del (p.Ser2697fs) rs1555286989
NM_000059.4(BRCA2):c.8130del (p.Ser2710fs) rs80359696
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8396dup (p.Pro2800fs) rs1555287629
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter) rs398122610
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs) rs397508040
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter) rs397507430
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val) rs879255262
NM_001351132.2(PEX5):c.677dup (p.Val227fs) rs796051881
NM_001371928.1(AHDC1):c.3185_3186del (p.Thr1062fs) rs2019349792
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp) rs483352867
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser) rs387907599
NM_006563.5(KLF1):c.892G>C (p.Ala298Pro) rs387907598
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_007294.3(BRCA1):c.457_458ins21 (p.?)
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter) rs80356908
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) rs80356935
NM_007294.4(BRCA1):c.1072del (p.Leu358fs) rs80357836
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1287del (p.Ile429fs) rs1060505045
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1434_1435del (p.Glu479fs) rs1060505050
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter) rs80357304
NM_007294.4(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.4(BRCA1):c.1674dup (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs) rs273897664
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs) rs80357585
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.4(BRCA1):c.2185G>T (p.Glu729Ter) rs876659852
NM_007294.4(BRCA1):c.2257dup (p.Ser753fs) rs1555590033
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter) rs80357449
NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs) rs80357820
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2438dup (p.Leu814fs) rs80357503
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter) rs80357003
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs) rs80357605
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter) rs80357295
NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter) rs80356973
NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer) rs397507207
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs) rs80357601
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) rs80357856
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter) rs80357106
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter) rs80357018
NM_007294.4(BRCA1):c.3477_3479delinsC (p.Lys1160fs) rs273899707
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter) rs80357296
NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs) rs1060505051
NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter) rs80357162
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs) rs80357564
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter) rs397509108
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter) rs80357208
NM_007294.4(BRCA1):c.3835del (p.Ala1279fs) rs1060505047
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs) rs587780802
NM_007294.4(BRCA1):c.3966del (p.Lys1322fs) rs80357979
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4146_4155dup (p.Ser1386fs) rs483353079
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter) rs80357011
NM_007294.4(BRCA1):c.445G>T (p.Glu149Ter) rs876658381
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs) rs80357907
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs) rs80357833
NM_007294.4(BRCA1):c.4972del (p.Thr1658fs) rs1060505044
NM_007294.4(BRCA1):c.4986+1G>T rs80358162
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter) rs80356879
NM_007294.4(BRCA1):c.5075-2A>C rs80358066
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.510del (p.Ile171fs) rs1060505052
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter) rs80356947
NM_007294.4(BRCA1):c.5193+2del rs273901751
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5407-2A>G rs80358002
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) rs80356914
NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs) rs1060505048
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.697_698del (p.Val233fs) rs80357747
NM_007294.4(BRCA1):c.794_795del (p.Ser265fs) rs80357955
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.848T>A (p.Leu283Ter) rs273902792
NM_007294.4(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_015373.4(CBY1):c.64_65dup (p.Asn23fs) rs1318058212
NM_024757.5(EHMT1):c.2018+1G>C rs1950997931
NM_130466.3(UBE3B):c.[1773delC];[1A>G]

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