ClinVar Miner

List of variants in gene GNPTAB studied for Sanfilippo syndrome type A

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3435-1G>A rs281865037
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526

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