ClinVar Miner

List of variants studied for Marshall syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr) rs1651478594 0.00001
NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser) rs1664593626
NM_001854.4(COL11A1):c.3816+1G>C rs398122828

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