ClinVar Miner

List of variants reported as likely pathogenic by Genome Sciences Centre, British Columbia Cancer Agency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NC_000010.10:g.43611191_61663279inv
NM_000038.6(APC):c.1682del (p.Lys561fs) rs1554082118
NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile) rs1555283267
NM_000489.6(ATRX):c.1558G>T (p.Val520Phe) rs1287383551
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.919+1G>T rs1131691039
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs) rs1555919960
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter) rs780712297
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs) rs1555913337
NM_001130823.3(DNMT1):c.1645-1G>T rs1568234664
NM_001141969.2(DAXX):c.1178del (p.Lys393fs) rs1359674497
NM_001141969.2(DAXX):c.329_330del (p.Leu109_Ser110insTer) rs1554283140
NM_001141969.2(DAXX):c.801_824del (p.Arg269_Asn276del) rs1554282803
NM_001141969.2(DAXX):c.850C>T (p.Pro284Ser) rs1554282793
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.245_259del (p.Asp82_Ile86del) rs1555166508
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.981_1006del (p.Tyr327_Glu336delinsTer) rs1555165008
NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs) rs1568503055
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp) rs1568504941
NM_002430.3(MN1):c.772_776del (p.His258fs) rs1568986076
NM_002430.3(MN1):c.785del (p.Gly262fs) rs1568986066
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_004958.4(MTOR):c.6625C>G (p.Leu2209Val) rs774204282
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr) rs1554728658
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs) rs1554728034
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter) rs1555155110
Single allele
dup(11)(q13.1q13.1)
inv(22)(q12.2q12.2)
t(5;22)(q31.2;q12.1)

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.