ClinVar Miner

List of variants reported as pathogenic for breast-ovarian cancer, familial, susceptibility to, 1 by Quest Diagnostics Nichols Institute San Juan Capistrano

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter) rs80357468
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.134+2T>C rs80358131
NM_007294.4(BRCA1):c.1386del (p.Thr464fs) rs80357722
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1434del (p.Glu479fs) rs431825386
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1523del (p.Pro508fs) rs80357782
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter) rs80356952
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs) rs273897664
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs) rs80357585
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter) rs56329598
NM_007294.4(BRCA1):c.2217dup (p.Val740fs) rs80357802
NM_007294.4(BRCA1):c.2241del (p.Asp749fs) rs80357650
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs) rs80357661
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs) rs398122670
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter) rs80356872
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter) rs80357497
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.3037_3038del (p.Glu1013fs) rs397507208
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs) rs397509050
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs) rs80357577
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter) rs80357687
NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs) rs80357928
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer) rs80357646
NM_007294.4(BRCA1):c.4136_4137del (p.Val1378_Ser1379insTer) rs397509141
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA rs273900724
NM_007294.4(BRCA1):c.4389_4392dup (p.Ile1465fs) rs879255282
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs) rs587781611
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs) rs80357915
NM_007294.4(BRCA1):c.4760C>G (p.Ser1587Ter) rs397509195
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007294.4(BRCA1):c.5075-2A>G rs80358066
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) rs786203663
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) rs80357055
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.848T>G (p.Leu283Ter) rs273902792
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter) rs397509330
NM_007294.4(BRCA1):c.930del (p.Gln310fs) rs80357689

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