ClinVar Miner

List of variants in gene GNPTAB reported as benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504

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