ClinVar Miner

List of variants studied for hereditary disorder of connective tissue by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Included ClinVar conditions (296):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe)
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu) rs2136577158
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val) rs1447463543
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp) rs2136551606
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) rs1555165242

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