ClinVar Miner

List of variants studied for MAK-related retinopathy by Ocular Genomics Institute, Massachusetts Eye and Ear

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001242957.3(MAK):c.647T>C (p.Leu216Ser) rs182178532 0.00008
NM_001242957.3(MAK):c.497G>A (p.Arg166His) rs387906648 0.00002
NM_001242957.3(MAK):c.1143+2_1143+3del rs2127548040
NM_001242957.3(MAK):c.366dup (p.His123fs) rs1776708973

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