ClinVar Miner

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

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.*323T>C rs75757716 0.03440
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00720
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799 0.00448
NM_024312.5(GNPTAB):c.571+12T>C rs112056979 0.00227
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950 0.00012
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024312.5(GNPTAB):c.*1109GTT[8] rs371050894
NM_024312.5(GNPTAB):c.*888AG[3] rs59855215

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