ClinVar Miner

List of variants in gene MAF reported as pathogenic for cataract 21 multiple types

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.863G>C (p.Arg288Pro) rs121917735
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611
NM_005360.5(MAF):c.890A>G (p.Lys297Arg) rs121917736
NM_005360.5(MAF):c.895C>A (p.Arg299Ser) rs786205221
NM_005360.5(MAF):c.895C>T (p.Arg299Cys) rs786205221
NM_005360.5(MAF):c.908A>C (p.Gln303Pro) rs786205222

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