ClinVar Miner

List of variants in gene MAF reported as likely pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.188C>G (p.Pro63Arg) rs1057518878
NM_005360.5(MAF):c.941A>C (p.His314Pro) rs1913779276

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