ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic by GeneReviews

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526 0.00003
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025 0.00002
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031 0.00001
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.4(GNPTAB):c.118-?_203+?dup86
NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs) rs34924076
NM_024312.4(GNPTAB):c.555_556ins296 (p.?)
NM_024312.4(GNPTAB):c.[2783A>G;2864C>T]]
NM_024312.4(GNPTAB):c.[3388_3389insC;3392C>T]
NM_024312.4(GNPTAB):c.[545T>A;614A>C]
NM_024312.4:c.750+3A>C
NM_024312.5(GNPTAB):c.118-2A>G rs281865023
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala) rs137852895
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs) rs281865027
NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly) rs142172397
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2188delinsAAA (p.Leu730fs) rs34161232
NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter) rs281865028
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs) rs281865030
NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer) rs281865032
NM_024312.5(GNPTAB):c.3145_3146insC (p.Gly1049fs) rs281865033
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter) rs137852898
NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs) rs34256381
NM_024312.5(GNPTAB):c.3249+1G>A rs281865012
NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs) rs281865035
NM_024312.5(GNPTAB):c.3434+1G>A rs281865036
NM_024312.5(GNPTAB):c.3435-1G>A rs281865037
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs) rs281865038
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs) rs281865039
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.850del (p.Thr284fs) rs34517004

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