ClinVar Miner

List of variants studied for Ochoa syndrome by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014813.3(LRIG2):c.2124A>C (p.Thr708=) rs1216793 0.90801
NM_014813.3(LRIG2):c.2531-22G>A rs1216791 0.76776
NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe) rs10883100 0.53113
NM_021828.5(HPSE2):c.1614-23C>T rs11189618 0.53048
NM_021828.5(HPSE2):c.*17C>T rs10883099 0.52995

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