ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic for not provided

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Total variants: 17
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NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969
NM_024312.5(GNPTAB):c.1034_1035AT[1] (p.Ile346fs) rs398124396
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter) rs398124397
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.153_156TTTG[1] (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.2896del (p.Met966fs) rs398124398
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) rs797044663
NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3556_3557AG[2] (p.Glu1187fs) rs781689303
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter) rs774506925
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) rs398124400
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964

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