ClinVar Miner

List of variants in gene GNPTAB reported as likely benign by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 9
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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.137G>A (p.Arg46Gln) rs117566084
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950
NM_024312.5(GNPTAB):c.571+12T>C rs112056979

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