ClinVar Miner

List of variants in gene CTNS, LOC130059980 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004937.2(CTNS):c.-313G>A rs17707869 0.13396
NM_004937.2(CTNS):c.-520T>C rs111977802 0.06010
NM_004937.2(CTNS):c.-458C>T rs11657606 0.05976
NM_004937.2(CTNS):c.-497C>T rs530371788 0.00291
NM_004937.2(CTNS):c.-509C>G rs534946329 0.00032
NM_004937.2(CTNS):c.-451A>G rs1012479993 0.00026
NM_004937.2(CTNS):c.-362C>T rs886052862 0.00004
NM_004937.2(CTNS):c.-364G>T rs886052861 0.00004
NM_004937.2(CTNS):c.-429T>C rs886052860 0.00001
NM_004937.2(CTNS):c.-476G>A rs373260107

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