ClinVar Miner

List of variants reported as pathogenic for GNPTAB-mucolipidosis by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_024312.5(GNPTAB):c.2868_2869del (p.Met957fs) rs2137112755
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849

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