ClinVar Miner

List of variants in gene COL11A1 studied for Hearing impairment

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn) rs144510951 0.00007
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu) rs750838060 0.00003
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly) rs756511227 0.00001
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala) rs1477374848
NM_001854.4(COL11A1):c.3472G>T (p.Val1158Phe) rs2101222310
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4691A>G (p.Asp1564Gly) rs2100840741
NM_001854.4(COL11A1):c.652-1G>C rs1064797115

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