ClinVar Miner

List of variants in gene HGSNAT reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
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.372-2A>G rs483352896 0.00002
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 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.607C>T (p.Arg203Ter) rs1563366896 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) rs1804565177
NM_152419.3(HGSNAT):c.1378-1G>A rs1804617510
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880

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