ClinVar Miner

List of variants in gene C1R studied for Ehlers-Danlos syndrome

Included ClinVar conditions (71):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001733.7(C1R):c.336G>C (p.Met112Ile) rs139531404 0.00271
NM_001733.7(C1R):c.277G>T (p.Gly93Cys) rs200185988 0.00045
NM_001733.7(C1R):c.445C>T (p.Arg149Trp) rs373462345 0.00014
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1073G>A (p.Cys358Tyr)
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1202G>A (p.Arg401His)
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs) rs1938056582
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.203C>T (p.Ser68Phe)
NM_001733.7(C1R):c.231+6G>A
NM_001733.7(C1R):c.265T>C (p.Cys89Arg) rs1938242419
NM_001733.7(C1R):c.419C>T (p.Ala140Val)
NM_001733.7(C1R):c.424+2T>C
NM_001733.7(C1R):c.450C>A (p.Ser150Arg)
NM_001733.7(C1R):c.542A>G (p.Glu181Gly)
NM_001733.7(C1R):c.646C>A (p.Pro216Thr) rs367700816
NM_001733.7(C1R):c.646C>G (p.Pro216Ala) rs367700816
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) rs769707492

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