ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic for Pseudo-Hurler polydystrophy

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Total variants: 33
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HGVS dbSNP
NM_024312.4(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969
NM_024312.4(GNPTAB):c.1001G>A (p.Arg334Gln) rs281864970
NM_024312.4(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654
NM_024312.4(GNPTAB):c.1120T>C (p.Phe374Leu) rs137852900
NM_024312.4(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026
NM_024312.4(GNPTAB):c.1208T>C (p.Ile403Thr) rs281864973
NM_024312.4(GNPTAB):c.1220A>C (p.Asp407Ala) rs137852895
NM_024312.4(GNPTAB):c.1285-2A>G rs281864974
NM_024312.4(GNPTAB):c.1325G>A (p.Cys442Tyr) rs281864975
NM_024312.4(GNPTAB):c.1385_1386insA (p.Asp462Glufs) rs281864978
NM_024312.4(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024312.4(GNPTAB):c.168T>A (p.Tyr56Ter) rs281864950
NM_024312.4(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820
NM_024312.4(GNPTAB):c.1985C>G (p.Ala662Gly) rs142172397
NM_024312.4(GNPTAB):c.232_234delGTT (p.Val78del) rs281864952
NM_024312.4(GNPTAB):c.2354T>G (p.Leu785Trp) rs144060383
NM_024312.4(GNPTAB):c.242G>T (p.Trp81Leu) rs281864953
NM_024312.4(GNPTAB):c.2574_2575delGA (p.Asn859Glnfs) rs281865029
NM_024312.4(GNPTAB):c.2693delA (p.Lys898Serfs) rs281864999
NM_024312.4(GNPTAB):c.2715+1G>A rs281865031
NM_024312.4(GNPTAB):c.2715+2T>G rs281865001
NM_024312.4(GNPTAB):c.2777A>C (p.Gln926Pro) rs281865002
NM_024312.4(GNPTAB):c.2866C>T (p.His956Tyr) rs281865004
NM_024312.4(GNPTAB):c.2867A>G (p.His956Arg) rs281865005
NM_024312.4(GNPTAB):c.3335+6T>G rs34788341
NM_024312.4(GNPTAB):c.3443_3446delTTTG (p.Val1148Alafs) rs281865018
NM_024312.4(GNPTAB):c.3458A>G (p.Asn1153Ser) rs281865019
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs) rs34002892
NM_024312.4(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.4(GNPTAB):c.44C>A (p.Ser15Tyr) rs281864947
NM_024312.4(GNPTAB):c.517_518insA (p.Pro173Hisfs) rs281864957
NM_024312.4(GNPTAB):c.571+3A>C rs281864960
NM_024312.4(GNPTAB):c.771G>A (p.Leu257=) rs281865025

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