ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, periodontitis type

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409 0.00349
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_001734.5(C1S):c.100A>G (p.Ser34Gly) rs148105120 0.00043
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp) rs121909582 0.00020
NM_001733.7(C1R):c.445C>T (p.Arg149Trp) rs373462345 0.00014
NM_001734.5(C1S):c.991C>T (p.Arg331Cys) rs140488585 0.00004
NM_001734.5(C1S):c.347A>G (p.Asn116Ser) rs782390414 0.00003
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe) rs782329906 0.00001
NM_001734.5(C1S):c.514G>A (p.Gly172Arg) rs375308014 0.00001
NM_001733.7(C1R):c.203C>T (p.Ser68Phe)
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.646C>A (p.Pro216Thr) rs367700816
NM_001733.7(C1R):c.646C>G (p.Pro216Ala) rs367700816
NM_001734.5(C1S):c.1015T>G (p.Ser339Ala)
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln) rs150549869
NM_001734.5(C1S):c.380A>G (p.Tyr127Cys)
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)
NM_001734.5(C1S):c.809T>C (p.Ile270Thr)

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