ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Pediatric Services,National Institutes of Health, Clinical Center

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) rs56345590
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn) rs200523717
NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn) rs199953230

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