ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, periodontal type 1

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Total variants: 10
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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.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_001733.7(C1R):c.664T>A (p.Tyr222Asn)

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