ClinVar Miner

List of variants reported as benign for congenital limb malformation by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile) rs4614723 0.98884
NM_003334.4(UBA1):c.811+9C>G rs4239964 0.98795
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=) rs4804151 0.65403
NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=) rs4804152 0.63966
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_182895.5(SCARF2):c.2498C>G (p.Ala833Gly) rs874101 0.60739
NM_020812.4(DOCK6):c.377+12T>A rs8113582 0.59788
NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=) rs2304155 0.55134
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu) rs12978266 0.53878
NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=) rs2304154 0.50722
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=) rs8409 0.49265
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_020812.4(DOCK6):c.5361+4C>T rs3745682 0.36094
NM_020812.4(DOCK6):c.3894+19G>A rs4804150 0.35804
NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=) rs3810307 0.29532
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val) rs117328686 0.02223
NM_020812.4(DOCK6):c.2956-5C>T rs3810309 0.01873
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_001018115.3(FANCD2):c.1278+3_1278+5del rs375350046
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_182895.5(SCARF2):c.2444C>G (p.Ala815Gly) rs874100

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.