ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000090.3(COL3A1):c.1178G>A (p.Gly393Asp) rs1553507867
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000093.4(COL5A1):c.2504G>C (p.Gly835Ala) rs1554799402
NM_000138.4(FBN1):c.1422T>G (p.Cys474Trp) rs1555400378
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.2168-1G>T rs1555399387
NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.4(FBN1):c.5917+6T>C rs1555395742
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.626G>A (p.Cys209Tyr) rs1555401687
NM_000138.4(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.4(FBN1):c.8504dup (p.Leu2836fs) rs1555393516
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181
NM_000454.4(SOD1):c.437C>A (p.Ala146Asp) rs1131690781
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg) rs747481280
NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln) rs895824243
NM_001199397.2(NEK1):c.1789T>A (p.Phe597Ile) rs776098853
NM_001199397.2(NEK1):c.2235T>G (p.Asn745Lys) rs34324114
NM_001199397.2(NEK1):c.3140C>T (p.Ser1047Leu) rs377607698
NM_001199397.2(NEK1):c.386T>G (p.Ile129Ser) rs1131690775
NM_001199397.2(NEK1):c.695G>A (p.Arg232His) rs772747361
NM_001199397.2(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_002474.3(MYH11):c.1A>G (p.Met1Val) rs1555459260
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
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_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_053025.4(MYLK):c.2390+2T>C rs1553808296
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781

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