ClinVar Miner

List of variants studied for retinal disorder by Autoinflammatory diseases unit, CHU de Montpellier

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) rs372419698 0.00001
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2808+1G>A rs1553223152
NM_001854.4(COL11A1):c.3277-1G>C
NM_001854.4(COL11A1):c.3762+1G>A
NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn)
NM_001854.4(COL11A1):c.4353_4356+4del
NM_001854.4(COL11A1):c.4368_4391del (p.Leu1457_Pro1464del)
NM_001854.4(COL11A1):c.4384G>T (p.Gly1462Cys)
NM_001854.4(COL11A1):c.4459_4464+1del
NM_001854.4(COL11A1):c.4537G>T (p.Gly1513Cys)
NM_001854.4(COL11A1):c.4547G>A (p.Gly1516Asp)
NM_001854.4(COL11A1):c.4554+1G>C rs886044244

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