ClinVar Miner

List of variants reported as likely pathogenic by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000540.2(RYR1):c.983G>A (p.Arg328Gln) rs755875230
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter) rs1559662077
NM_001005463.3(EBF3):c.554G>A (p.Arg185Lys) rs1554934855
NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001039591.3(USP9X):c.5595del (p.Val1866fs) rs1555933969
NM_001079846.1(CREBBP):c.6161C>G (p.Ser2054Ter) rs1555471077
NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe) rs1554329113
NM_001163435.3(TBCK):c.2060-2A>G rs62321379
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) rs1057518042
NM_001282531.3(ADNP):c.1717del (p.Asp573fs) rs1555810193
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys) rs1555985554
NM_001356.4(DDX3X):c.820C>T (p.Pro274Ser) rs1267519974
NM_001399.5(EDA):c.956G>A (p.Ser319Asn) rs483352804
NM_001429.4(EP300):c.3731_3733TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_002016.1(FLG):c.4544C>A (p.Ser1515Ter) rs180768115
NM_002578.5(PAK3):c.298C>T (p.Arg100Ter) rs780775497
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln) rs1555877287
NM_003336.4(UBE2A):c.373del (p.Gln125fs) rs1556244406
NM_003482.3(KMT2D):c.9306del (p.Ala3103fs) rs1555190635
NM_003718.5(CDK13):c.2246C>A (p.Ala749Glu) rs1562722163
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln) rs1555927532
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_005654.6(NR2F1):c.289C>G (p.His97Asp) rs1287146448
NM_005859.5(PURA):c.496C>T (p.Arg166Cys) rs1554129096
NM_005862.3(STAG1):c.3261del (p.Lys1087fs) rs1553789166
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_006594.5(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178
NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg) rs1554121265
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro) rs1480178032
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys) rs1554120589
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter) rs1555527929
NM_014191.4(SCN8A):c.5270T>A (p.Val1757Asp) rs1555231010
NM_014191.4(SCN8A):c.773C>T (p.Thr258Ile) rs1555218630
NM_014639.3(TTC37):c.1499G>T (p.Gly500Val) rs138144509
NM_014927.5(CNKSR2):c.1282C>T (p.Arg428Ter) rs1064794022
NM_014927.5(CNKSR2):c.1303+1G>C rs1555941759
NM_015346.4(ZFYVE26):c.2222del (p.Lys741fs) rs1555399288
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter) rs1554902760
NM_020732.3(ARID1B):c.6526C>T (p.Gln2176Ter) rs758120346
NM_020920.4(CHD8):c.5266C>T (p.Arg1756Ter) rs1131691627
NM_022552.4(DNMT3A):c.2086C>T (p.Gln696Ter) rs750325978
NM_022552.4(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_031433.4(MFRP):c.104dup (p.Pro36fs) rs749156010
NM_031433.4(MFRP):c.899-2A>G rs1245503127
NM_031844.3(HNRNPU):c.596dup (p.Pro200fs) rs1553283831
NM_032335.3(PHF6):c.760_762ACA[2] (p.Thr256del) rs1556019105
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081

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.