ClinVar Miner

List of variants in gene HGSNAT reported as benign for not provided

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Gene type:
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Total variants: 26
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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.1251-291G>C rs3739432 0.85929
NM_152419.3(HGSNAT):c.633+240T>G rs4272427 0.75611
NM_152419.3(HGSNAT):c.1129-222G>A rs34826093 0.74278
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.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_152419.3(HGSNAT):c.820+123C>T rs11998092 0.03266
NM_152419.3(HGSNAT):c.493+120G>A rs73631573 0.03265
NM_152419.3(HGSNAT):c.821-276G>A rs112573852 0.03238
NM_152419.3(HGSNAT):c.1251-220A>G rs111450094 0.02783
NM_152419.3(HGSNAT):c.563+50C>T rs73675460 0.02501
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_152419.3(HGSNAT):c.1251-130C>T rs138219144 0.02489
NM_152419.3(HGSNAT):c.1251-289G>A rs141464042 0.02485
NM_152419.3(HGSNAT):c.1251-47C>T rs16891686 0.02484
NM_152419.3(HGSNAT):c.119-164del rs58733009 0.02228
NM_152419.3(HGSNAT):c.234+331C>T rs73675458 0.02224
NM_152419.3(HGSNAT):c.633+210G>A rs73631580 0.01510
NM_152419.3(HGSNAT):c.235-75G>A rs117256780 0.01440
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.119-23del rs375505816
NM_152419.3(HGSNAT):c.1464+216dup rs3842205
NM_152419.3(HGSNAT):c.564-112_564-109del rs202173801

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