ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic by Counsyl

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Total variants: 15
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HGVS dbSNP
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.1955_1958TAGT[1] (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3439_3442TTTG[1] (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024

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