ClinVar Miner

List of variants studied for perceptual disorders by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000350.3(ABCA4):c.2279T>C (p.Leu760Pro)
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_004568.6(SERPINB6):c.217C>T (p.Gln73Ter)
NM_138393.4(REEP6):c.276C>A (p.Tyr92Ter)

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