ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Quest Diagnostics Nichols Institute San Juan Capistrano and "pathogenic" from any submitter

Minimum review status of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano: Collection method of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp) rs72552755 0.00005
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn) rs757164724 0.00001
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
GRCh37/hg19 10q24.2(chr10:100690060-100911811)x1
GRCh37/hg19 13q12.11(chr13:20796981-21104487)x1
GRCh37/hg19 1p35.1(chr1:33490421-33599915)x1
GRCh37/hg19 2q36.3(chr2:228534400-228589902)x1
NM_000038.6(APC):c.6510del (p.Glu2172fs) rs1554087474
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile) rs397508766
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr) rs41467944
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) rs34948328
NM_000518.5(HBB):c.315G>C (p.Arg105Ser) rs33914944
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_006231.4(POLE):c.1359+5G>A rs761564635
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.3080_3081del (p.Asp1026_Ser1027insTer) rs752148857
NM_007294.4(BRCA1):c.132C>T (p.Cys44=) rs876658362
NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs) rs879255287
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
Single allele

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.