ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, periodontal type 1

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001733.7(C1R):c.231+6G>A rs145563624 0.00314
NM_001733.7(C1R):c.336G>C (p.Met112Ile) rs139531404 0.00271
NM_001733.7(C1R):c.277G>T (p.Gly93Cys) rs200185988 0.00030
NM_001733.7(C1R):c.419C>T (p.Ala140Val) rs200539827 0.00021
NM_001733.7(C1R):c.445C>T (p.Arg149Trp) rs373462345 0.00014
NM_001733.7(C1R):c.1202G>A (p.Arg401His) rs1046619694 0.00009
NM_001733.7(C1R):c.450C>A (p.Ser150Arg) rs760553459 0.00007
NM_001733.7(C1R):c.542A>G (p.Glu181Gly) rs916076749 0.00003
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1073G>A (p.Cys358Tyr) rs1057518645
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.1383G>C (p.Arg461Ser)
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) rs1938272254
NM_001733.7(C1R):c.424+2T>C rs2539629029
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.664T>A (p.Tyr222Asn) rs760052651
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.925T>C (p.Cys309Arg)
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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