ClinVar Miner

List of variants reported as likely pathogenic by Centre for Genomic and Experimental Medicine, University of Edinburgh

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_001199397.3(NEK1):c.695G>A (p.Arg232His) rs772747361 0.00006
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile) rs776098853 0.00004
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu) rs377607698 0.00004
NM_018719.5(CDCA7L):c.*1246G>A rs72658835 0.00004
NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017 0.00001
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455 0.00001
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg) rs747481280 0.00001
NM_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241 0.00001
NM_000090.4(COL3A1):c.1178G>A (p.Gly393Asp) rs1553507867
NM_000093.5(COL5A1):c.2504G>C (p.Gly835Ala) rs1554799402
NM_000138.5(FBN1):c.1422T>G (p.Cys474Trp) rs1555400378
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.2168-1G>T rs1555399387
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.5(FBN1):c.5917+6T>C rs1555395742
NM_000138.5(FBN1):c.626G>A (p.Cys209Tyr) rs1555401687
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.8504dup (p.Leu2836fs) rs1555393516
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181
NM_000454.5(SOD1):c.437C>A (p.Ala146Asp) rs1131690781
NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln) rs895824243
NM_001199397.3(NEK1):c.386T>G (p.Ile129Ser) rs1131690775
NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg) rs1275074212
NM_002474.3(MYH11):c.1A>G (p.Met1Val) rs1555459260
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_004612.4(TGFBR1):c.974-2A>G rs1554701881
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) rs55824172
NM_053025.4(MYLK):c.2390+2T>C rs1553808296
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781

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.