ClinVar Miner

List of variants in gene HGSNAT reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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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.*1216G>A rs73569597 0.04598
NM_152419.3(HGSNAT):c.*1780C>T rs1058608 0.04517
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.*477G>A rs76878005 0.00567
NM_152419.3(HGSNAT):c.*1212C>T rs186132187 0.00506
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

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