ClinVar Miner

List of variants in gene HGSNAT reported as benign for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

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Gene type:
ClinVar version:
Total variants: 18
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NM_152419.3(HGSNAT):c.1250+7G>A rs74795999
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.234+14C>G rs146429523
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180

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