List of variants studied for Ehlers-Danlos syndrome by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)	rs1057519577
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.1303T>C (p.Trp435Arg)	rs1060499554
NM_001733.7(C1R):c.149_150delinsAT (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.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
NM_001734.5(C1S):c.880T>C (p.Cys294Arg)	rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)	rs886040974

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