ClinVar Miner

List of variants in gene STX16, STX16-NPEPL1 studied for autosomal dominant pseudohypoaldosteronism type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001001433.3(STX16):c.*651_*653dup rs566135029 0.00368
NM_001001433.3(STX16):c.*1725A>T rs545095749 0.00019
NM_001001433.3(STX16):c.*2347_*2348insAAA rs761666161
NM_001001433.3(STX16):c.*2348del rs886056863
NM_001001433.3(STX16):c.*2363_*2366dup rs10695175
NM_001001433.3(STX16):c.*2364_*2366dup rs10695175
NM_001001433.3(STX16):c.*2496del rs886056865
NM_001001433.3(STX16):c.*3175_*3176del rs35295928

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