ClinVar Miner

List of variants studied for breast-ovarian cancer, familial, susceptibility to, 1 by Department of Medical Genetics, Oslo University Hospital

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
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_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
NC_000017.10:g.(41219713_41222944)_(41267797_41276033)del
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
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_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.115T>G (p.Cys39Gly) rs80357164
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.140G>T (p.Cys47Phe) rs80357150
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.213-5T>A rs886038196
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.4096+3A>G rs80358015
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.5074+2T>C rs80358089
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.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5193+2del rs273901751
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
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.5513T>G (p.Val1838Gly) rs80357107
NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs) rs1060505048
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
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
Single allele

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