List of variants reported as pathogenic for Ovarian carcinoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	rs62625308	0.00001
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)	rs587782861
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)	rs587779243
NM_002485.5(NBN):c.1071dup (p.Val358fs)	rs2129745554
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)	rs772909239
NM_002878.4(RAD51D):c.480+1G>A	rs1597862471
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)	rs137886232
NM_007194.4(CHEK2):c.792+2T>A	rs545982789
NM_007294.4(BRCA1):c.1728dup (p.Glu577fs)	rs397507192
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)	rs397508926
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)	rs80357223
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	rs80357609
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)	rs80357678
NM_007294.4(BRCA1):c.445G>T (p.Glu149Ter)	rs876658381
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)	rs747539984

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.