ClinVar Miner

List of variants reported as likely pathogenic by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.5546-1G>A rs1566899590
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.6453C>T rs794728251
NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys)
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000368.4(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter) rs754502950
NM_000544.3(TAP2):c.217_218del (p.Thr73fs) rs1321880935
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.2318dup (p.Leu773fs) rs1596350476
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001061.6(TBXAS1):c.580_581del (p.Ala194fs) rs760698812
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) rs1600404795
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) rs1561254290
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) rs138303817
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002834.4(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_003239.4(TGFB3):c.927-1G>C rs767548724
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
NM_018719.5(CDCA7L):c.*1077_*1097dup
NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter) rs368482584
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_030984.5(TBXAS1):c.1364+1863G>T rs149988492
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219

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.