ClinVar Miner

List of variants in gene combination LOC128706665, LOC128706666, MKKS reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001394148.2(LOC128706665):c.*87A>G rs140884406 0.00358
NM_001394148.2(LOC128706665):c.-22+2430T>G rs377246386 0.00003
NM_170784.3(MKKS):c.-649+2202_-649+2204dup rs143825746

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