ClinVar Miner

List of variants in gene GNPTAB reported as benign for Mucolipidosis type II

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.3434+112C>G rs3736475 0.60946
NM_024312.5(GNPTAB):c.365+145C>T rs2108694 0.60798
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476 0.30966
NM_024312.5(GNPTAB):c.204-103G>T rs11111024 0.12389
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.*1195A>C rs112815421 0.07590
NM_024312.5(GNPTAB):c.*43C>T rs79089208 0.03438
NM_024312.5(GNPTAB):c.*814T>G rs7974637 0.03436
NM_024312.5(GNPTAB):c.*1457A>G rs10219650 0.03091
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.*1240T>C rs146119768 0.01250
NM_024312.5(GNPTAB):c.*143G>A rs76267316 0.01208
NM_024312.5(GNPTAB):c.*612T>C rs57261919 0.01208
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
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.1500C>T (p.Asn500=) rs77597686 0.00317
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249 0.00083
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=) rs148948607 0.00058
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504

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