ClinVar Miner

List of variants studied for Marshall syndrome by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
NM_001854.4(COL11A1):c.4519-2del rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910

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