ClinVar Miner

List of variants in gene MAK reported as benign for Retinitis Pigmentosa, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001242957.3(MAK):c.*1688C>A rs501948 0.83306
NM_001242957.3(MAK):c.1905T>C (p.His635=) rs126405 0.83306
NM_001242957.3(MAK):c.*1373C>T rs526495 0.79628
NM_001242957.3(MAK):c.*905del rs35696238

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