ClinVar Miner

List of variants reported as likely benign for Marshall syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_001854.4(COL11A1):c.4140+13del rs781736900 0.00012
NM_001854.4(COL11A1):c.4032+16A>G rs200202502 0.00006
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser) rs1664593626

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