ClinVar Miner

List of variants studied for Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409 0.00349
NM_001734.5(C1S):c.100A>G (p.Ser34Gly) rs148105120 0.00043
NM_001734.5(C1S):c.979G>C (p.Val327Leu) rs2239170 0.00032
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp) rs121909582 0.00020
NM_001734.5(C1S):c.622T>C (p.Leu208=) rs144205018 0.00006
NM_001734.5(C1S):c.991C>T (p.Arg331Cys) rs140488585 0.00004
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_001734.5(C1S):c.1198G>C (p.Glu400Gln) rs150549869

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