ClinVar Miner

List of variants reported as pathogenic for Marshall syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
COL11A1, 1-BP INS, 3816T
COL11A1, 4-BP DEL, EX50/IVS50
NM_001854.4(COL11A1):c.3816+1G>A rs398122828

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