ClinVar Miner

List of variants in gene HGSNAT reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 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.338T>C (p.Leu113Pro) rs765211666 0.00001
NM_152419.3(HGSNAT):c.852-2A>C rs755710040 0.00001
NM_152419.3(HGSNAT):c.1012+2dup rs1554533241
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1542+1G>A rs1554537612
NM_152419.3(HGSNAT):c.1542+1G>C rs1554537612
NM_152419.3(HGSNAT):c.1542+2T>G rs1554537613
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs) rs1298170960
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter) rs1554538302
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs) rs1554538306
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer) rs1409093216
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln) rs1554529803
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup) rs1554531686
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.743+1del rs1554531744
NM_152419.3(HGSNAT):c.744-2A>G rs762402992
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys) rs1554532014
NM_152419.3(HGSNAT):c.851+1G>A rs1554532283
NM_152419.3(HGSNAT):c.851+1G>T rs1554532283
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933

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