ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by Division Human Genetics,Medical University Innsbruck

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_001733.6(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.6(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.6(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.6(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.6(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1200_1215del16insTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delTCinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001734.3(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_201442.3(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974

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