ClinVar Miner

List of variants in gene HGSNAT reported as benign for mucopolysaccharidosis type 3C

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_152419.3(HGSNAT):c.*1801T>C rs3739431 0.87926
NM_152419.3(HGSNAT):c.371+82C>T rs10958738 0.72852
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_152419.3(HGSNAT):c.*1216G>A rs73569597 0.04598
NM_152419.3(HGSNAT):c.*1780C>T rs1058608 0.04517
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_152419.3(HGSNAT):c.*1231G>A rs61743005 0.03511
NM_152419.3(HGSNAT):c.*585T>C rs73675470 0.02497
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_152419.3(HGSNAT):c.*733G>T rs139144727 0.00863
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_152419.3(HGSNAT):c.*477G>A rs76878005 0.00567
NM_152419.3(HGSNAT):c.*1212C>T rs186132187 0.00506
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.234+14C>G rs146429523 0.00245
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085 0.00063
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_152419.3(HGSNAT):c.493+13T>A rs201688937 0.00019
NM_152419.3(HGSNAT):c.821-28T>C rs201415703 0.00014
NM_152419.3(HGSNAT):c.1542+20C>T rs548171657 0.00003
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815 0.00003
NM_152419.3(HGSNAT):c.*1086G>C rs145370743
NM_152419.3(HGSNAT):c.*1942A>G rs112626858
NM_152419.3(HGSNAT):c.*2755C>T rs76686222
NM_152419.3(HGSNAT):c.*600C>T rs377372501
NM_152419.3(HGSNAT):c.1129-7dup
NM_152419.3(HGSNAT):c.1250+19dup
NM_152419.3(HGSNAT):c.1251-12del
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.564-4dup rs748560542
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962

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