ClinVar Miner

List of variants in gene IDH3B studied for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006899.5(IDH3B):c.118-3G>C rs2073193 0.66092
NM_006899.5(IDH3B):c.636G>A (p.Lys212=) rs114253155 0.01866
NM_006899.5(IDH3B):c.1047G>A (p.Val349=) rs75848934 0.00818
NM_006899.5(IDH3B):c.117+6C>A rs191680997 0.00388
NM_006899.5(IDH3B):c.684G>A (p.Leu228=) rs143110856 0.00041
NM_006899.5(IDH3B):c.252C>T (p.His84=) rs139159095 0.00038
NM_006899.5(IDH3B):c.624G>C (p.Lys208Asn) rs148250924 0.00026
NM_006899.5(IDH3B):c.916-10C>T rs202127751 0.00026
NM_006899.5(IDH3B):c.337+11C>T rs117928032 0.00024
NM_006899.5(IDH3B):c.*177A>G rs367573436 0.00016
NM_006899.5(IDH3B):c.900C>T (p.Tyr300=) rs201237064 0.00014
NM_006899.5(IDH3B):c.73G>A (p.Gly25Ser) rs112208578 0.00012
NM_006899.5(IDH3B):c.1010+8A>G rs200242149 0.00010
NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser) rs376112899 0.00006
NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr) rs761437016 0.00005
NM_006899.5(IDH3B):c.*139G>A rs1047114761 0.00004
NM_006899.5(IDH3B):c.118-6A>G rs532273295 0.00004
NM_006899.5(IDH3B):c.426A>G (p.Val142=) rs760619105 0.00004
NM_006899.5(IDH3B):c.857G>A (p.Gly286Glu) rs774471320 0.00003
NM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln) rs145651330 0.00002
NM_006899.5(IDH3B):c.399-12G>T rs781697514 0.00002
NM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser) rs764873315 0.00001
NM_006899.5(IDH3B):c.160C>G (p.Leu54Val) rs767152068 0.00001
NM_006899.5(IDH3B):c.161T>C (p.Leu54Pro) rs886056572 0.00001
NM_006899.5(IDH3B):c.338-10G>T rs754403242 0.00001
NM_006899.5(IDH3B):c.66A>G (p.Ala22=) rs886056573 0.00001
NM_006899.5(IDH3B):c.1014T>C (p.Leu338=) rs886056569
NM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg) rs886056568
NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del) rs781157150
NM_006899.5(IDH3B):c.16G>A (p.Gly6Arg) rs760454593
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) rs745313320
NM_006899.5(IDH3B):c.395T>C (p.Leu132Pro) rs137853020
NM_006899.5(IDH3B):c.522G>T (p.Leu174=) rs778097475
NM_006899.5(IDH3B):c.589del (p.Ile197fs) rs1600169350
NM_006899.5(IDH3B):c.706G>C (p.Val236Leu) rs2086919311
NM_006899.5(IDH3B):c.768+1G>T rs1568548317
NM_006899.5(IDH3B):c.916-8C>T rs1412842843
NM_006899.5(IDH3B):c.916G>T (p.Gly306Cys) rs886056571
NM_006899.5(IDH3B):c.917G>A (p.Gly306Asp) rs886056570

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.