ClinVar Miner

List of variants in gene CTNS reported by IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004937.2:c.661insT
NM_004937.3(CTNS):c.120del (p.Asn41fs) rs879255616
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.91dup (p.Val31fs) rs879255613

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