List of variants reported as pathogenic for breast-ovarian cancer, familial, susceptibility to, 1 by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 101

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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.116G>A (p.Cys39Tyr)	rs80357498	0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	rs80357123	0.00003
NM_000059.4(BRCA2):c.793+1G>A	rs81002846	0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	rs28897756	0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	rs80356898	0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	rs80358438
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)	rs80359304
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	rs80359306
NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter)	rs80358474
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter)	rs397507624
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs)	rs276174825
NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter)	rs80358546
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)	rs80358573
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)	rs80359391
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	rs80359403
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	rs397515636
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)	rs80358659
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)	rs276174842
NM_000059.4(BRCA2):c.4530del (p.Glu1511fs)	rs886040537
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	rs80359473
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	rs80359479
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)	rs397507758
NM_000059.4(BRCA2):c.5119dup (p.Thr1707fs)	rs886040567
NM_000059.4(BRCA2):c.5197_5198del (p.Ser1733fs)	rs876660228
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)	rs80359493
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)	rs397507778
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)	rs80359507
NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs)	rs397507784
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs)	rs397507787
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)	rs276174859
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	rs80359530
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)	rs80359543
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter)	rs80358844
NM_000059.4(BRCA2):c.631+1G>A	rs81002897
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)	rs80359584
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)	rs80359592
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)	rs80359596
NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)	rs397507862
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)	rs397507865
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	rs80359604
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)	rs80359613
NM_000059.4(BRCA2):c.6814del (p.Arg2272fs)	rs397507885
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)	rs28897743
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)	rs80359636
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)	rs397507907
NM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter)	rs397507910
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	rs80359671
NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)	rs397507937
NM_000059.4(BRCA2):c.7806-2A>G	rs81002836
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)	rs276174900
NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)	rs397507952
NM_000059.4(BRCA2):c.8029del (p.Glu2677fs)	rs80359691
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)	rs397507965
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)	rs276174907
NM_000059.4(BRCA2):c.8423_8427delinsA (p.Leu2808fs)	rs2072821453
NM_000059.4(BRCA2):c.8487+2T>G	rs886040944
NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter)	rs1057517865
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)	rs80359724
NM_000059.4(BRCA2):c.8755-1G>A	rs81002812
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)	rs80359140
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)	rs80359144
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)	rs80359180
NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)	rs80359199
NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter)	rs886040852
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)	rs80356935
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)	rs80357068
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)	rs80357714
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)	rs80357471
NM_007294.4(BRCA1):c.181T>A (p.Cys61Ser)	rs28897672
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	rs55851803
NM_007294.4(BRCA1):c.1958_1961del (p.Lys653fs)	rs80357522
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)	rs80357522
NM_007294.4(BRCA1):c.2269del (p.Val757fs)	rs80357583
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)	rs80357377
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter)	rs878853292
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)	rs80357749
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)	rs397509067
NM_007294.4(BRCA1):c.3629_3630del (p.Glu1210fs)	rs80357589
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	rs80357609
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)	rs80356903
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer)	rs80357646
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	rs80357711
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)	rs747539984
NM_007294.4(BRCA1):c.457_458del (p.Ser153fs)	rs397509185
NM_007294.4(BRCA1):c.4676-2A>G	rs80358096
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.5152+1G>A	rs80358094
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)	rs80357867
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)	rs397509274
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)	rs80357783
NM_007294.4(BRCA1):c.676del (p.Cys226fs)	rs80357941
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	rs80357914
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)	rs80357919
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)	rs80357989
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter)	rs397509330

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