ClinVar Miner

List of variants in gene CTNS, P2RX5-TAX1BP3, TAX1BP3 studied for Nephropathic cystinosis

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.*2569C>T rs7093 0.33888
NM_004937.3(CTNS):c.*2546G>C rs1128109 0.13235
NM_004937.3(CTNS):c.*2550G>A rs1128098 0.13232
NM_004937.3(CTNS):c.*2717A>G rs567476347 0.00099
NM_004937.3(CTNS):c.*2662G>A rs534360650 0.00079
NM_004937.3(CTNS):c.*2593A>T rs549150113 0.00071
NM_004937.3(CTNS):c.*2568G>C rs770525743 0.00035
NM_004937.3(CTNS):c.*2584C>T rs548531950 0.00011
NM_004937.3(CTNS):c.*2628C>T rs886052886 0.00004
NM_004937.3(CTNS):c.*2527G>A rs886052885 0.00003

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