ClinVar Miner

List of variants in gene HGSNAT reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 57
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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.493+46G>T rs72647302 0.03382
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.1464+145G>A rs117202729 0.01575
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.1727-106T>G rs117086996 0.01329
NM_152419.3(HGSNAT):c.821-235T>A rs148799956 0.01111
NM_152419.3(HGSNAT):c.1543-74A>G rs144064738 0.01002
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.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=) rs772611068 0.00004
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile) rs374287774 0.00004
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.332T>C (p.Leu111Pro) rs371296485 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.852-2A>C rs755710040 0.00001
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter) rs954238515
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.119-23del rs375505816
NM_152419.3(HGSNAT):c.1250+342dup rs139380930
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1286G>T (p.Gly429Val)
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1464+216dup rs3842205
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys) rs377050184
NM_152419.3(HGSNAT):c.1726G>T (p.Gly576Ter) rs1366558211
NM_152419.3(HGSNAT):c.493+836G>A
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.564-112_564-109del rs202173801
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.740G>C (p.Arg247Thr) rs2130746279

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