ClinVar Miner

List of variants studied for autosomal recessive disease by Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615

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