ClinVar Miner

List of variants in gene GNPTAB reported as uncertain significance for I cell disease; Pseudo-Hurler polydystrophy

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Total variants: 27
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HGVS dbSNP
NC_000012.11:g.(?_102224317)_(102224473_?)dup
NM_024312.4:c.3498_3499ins9 rs1555268297
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln)
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg) rs145281185
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp) rs749452608
NM_024312.5(GNPTAB):c.1666_1668ATT[1] (p.Ile557del) rs1555269798
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu) rs1555269734
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val)
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys) rs779572693
NM_024312.5(GNPTAB):c.1973_1975TTC[1] (p.Leu659del) rs754722814
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val) rs142172397
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del) rs281864999
NM_024312.5(GNPTAB):c.2706_2708TCT[1] (p.Leu904del) rs774128798
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del) rs779351251
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg)
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del) rs1277911354
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup) rs745600783
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266

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