ClinVar Miner

List of variants in gene HGSNAT studied for Retinal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00016
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys) rs564435701 0.00006
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 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.689C>T (p.Thr230Met) rs200416815 0.00003
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro) rs1433404175 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=) rs772299811 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.1013-1G>C rs1804147747
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) rs752939204
NM_152419.3(HGSNAT):c.1081G>A (p.Val361Met)
NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)
NM_152419.3(HGSNAT):c.1229_1237del (p.Leu410_Val412del) rs1804530896
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1348G>A (p.Asp450Asn)
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)
NM_152419.3(HGSNAT):c.1496G>A (p.Arg499Gln)
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1705_1707dup (p.Gly569_Thr570insGly)
NM_152419.3(HGSNAT):c.1856G>A (p.Trp619Ter) rs1563388121
NM_152419.3(HGSNAT):c.448G>A (p.Ala150Thr)
NM_152419.3(HGSNAT):c.636G>A (p.Glu212=)
NM_152419.3(HGSNAT):c.636G>C (p.Glu212Asp)
NM_152419.3(HGSNAT):c.652A>G (p.Arg218Gly)
NM_152419.3(HGSNAT):c.791A>G (p.Tyr264Cys) rs1803654618
NM_152419.3(HGSNAT):c.801C>G (p.Phe267Leu)
NM_152419.3(HGSNAT):c.820G>C (p.Gly274Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.