ClinVar Miner

List of variants reported by Human Genomics Unit, Institute for molecular medicine Finland (FIMM)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001102654.2(NTF3):c.266G>A (p.Gly89Glu) rs1805149 0.08142
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) rs138878772 0.00261
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404 0.00063
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln) rs185418119 0.00031
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) rs200894751 0.00022
NM_006941.4(SOX10):c.832A>G (p.Ile278Val) rs760539449 0.00006
NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val) rs1419539530 0.00003
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040 0.00001
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys) rs765763704
NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly) rs1560465785
NM_020975.6(RET):c.111G>A (p.Trp37Ter) rs1564489315
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.2865dup (p.Pro956fs) rs1564500612
NM_020975.6(RET):c.3143del (p.Leu1048fs) rs1564501934
NM_020975.6(RET):c.440T>C (p.Phe147Ser) rs1564490097
NM_020975.6(RET):c.604G>C (p.Val202Leu) rs751572082
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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.