ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Blueprint Genetics

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) rs869025493 0.00010
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375 0.00003
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430

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