ClinVar Miner

List of variants reported as uncertain significance by Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) rs80358443 0.00009
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile) rs80357364 0.00005
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val) rs80358571 0.00002
NM_000059.4(BRCA2):c.4906A>G (p.Lys1636Glu) rs398122788 0.00002
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=) rs80359198 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val) rs864622352 0.00001
NM_000059.4(BRCA2):c.171C>T (p.Tyr57=) rs201523522 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser) rs117187202 0.00001
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe) rs779967765 0.00001
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn) rs587781536 0.00001
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301 0.00001
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358 0.00001
NM_007294.4(BRCA1):c.3071G>C (p.Ser1024Thr) rs757579891 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245 0.00001
NM_000059.4(BRCA2):c.10150C>G (p.Arg3384Gly) rs397507568
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser) rs80358414
NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys) rs886037807
NM_000059.4(BRCA2):c.1591A>G (p.Lys531Glu) rs876659050
NM_000059.4(BRCA2):c.1786G>A (p.Asp596Asn) rs56328701
NM_000059.4(BRCA2):c.2136G>T (p.Leu712=) rs886037813
NM_000059.4(BRCA2):c.3052A>C (p.Lys1018Gln) rs886037810
NM_000059.4(BRCA2):c.3473A>G (p.Glu1158Gly) rs886037808
NM_000059.4(BRCA2):c.3475T>G (p.Cys1159Gly) rs886037814
NM_000059.4(BRCA2):c.4548C>G (p.Ile1516Met) rs886037815
NM_000059.4(BRCA2):c.454A>G (p.Thr152Ala) rs886037806
NM_000059.4(BRCA2):c.461A>G (p.Gln154Arg) rs756335278
NM_000059.4(BRCA2):c.5345A>G (p.Gln1782Arg) rs758959174
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6235G>T (p.Val2079Leu) rs886037812
NM_000059.4(BRCA2):c.6256A>G (p.Ile2086Val) rs886037811
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.6598T>C (p.Phe2200Leu) rs886037809
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7509C>T (p.Val2503=) rs766080516
NM_000059.4(BRCA2):c.7545A>G (p.Thr2515=) rs767555621
NM_000059.4(BRCA2):c.7672G>C (p.Glu2558Gln) rs886037816
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser) rs80359006
NM_000059.4(BRCA2):c.7967T>C (p.Leu2656Pro) rs886037817
NM_000059.4(BRCA2):c.8329A>G (p.Lys2777Glu) rs886037818
NM_000059.4(BRCA2):c.8500A>G (p.Thr2834Ala) rs886037819
NM_000059.4(BRCA2):c.9014G>C (p.Arg3005Thr) rs886037821
NM_000059.4(BRCA2):c.9020G>A (p.Arg3007Lys) rs886037820
NM_000059.4(BRCA2):c.92G>T (p.Trp31Leu) rs397508045
NM_007294.4(BRCA1):c.1819A>G (p.Lys607Glu) rs80357220
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro) rs876658221
NM_007294.4(BRCA1):c.4189A>C (p.Arg1397=) rs886037792
NM_007294.4(BRCA1):c.4704C>T (p.Ile1568=) rs886037793
NM_007294.4(BRCA1):c.4787C>T (p.Ser1596Leu) rs80357429
NM_007294.4(BRCA1):c.4803A>G (p.Lys1601=) rs886037794
NM_007294.4(BRCA1):c.5562del (p.Ile1855fs) rs886037795
NM_007294.4(BRCA1):c.744C>G (p.Thr248=) rs886037791

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.