ClinVar Miner

List of variants studied for ataxia-hypogonadism-choroidal dystrophy syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001

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