ClinVar Miner

List of variants in gene GNPTAB reported as likely benign for I cell disease

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Total variants: 11
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HGVS dbSNP
NM_024312.5(GNPTAB):c.-145G>A rs544455347
NM_024312.5(GNPTAB):c.-157C>A rs140600142
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.18G>A (p.Leu6=) rs4764655
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678

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