ClinVar Miner

List of variants in gene GNPTAB reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 4
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HGVS dbSNP
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892

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