ClinVar Miner

List of variants in gene COL11A1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2295+1G>C rs1664585937
NM_001854.4(COL11A1):c.3978+2T>G rs1570712875
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.652-1G>C rs1064797115

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