ClinVar Miner

List of variants studied for hereditary disorder of connective tissue by Clinical Genetics Laboratory, Region Ostergotland

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.4955G>C (p.Cys1652Ser)
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly) rs1555395745
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser) rs1566894230
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr) rs1567005489

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