ClinVar Miner

List of variants in gene HGSNAT reported as likely pathogenic for mucopolysaccharidosis type 3C

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 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.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 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
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NM_152419.3(HGSNAT):c.1013-1G>C rs1804147747
NM_152419.3(HGSNAT):c.1058_1059insT (p.Val354fs)
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter) rs1804526900
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter) rs1804568176
NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1378-2A>G rs2130810560
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter) rs753355844
NM_152419.3(HGSNAT):c.1517_1523del (p.Arg506fs)
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.1543-2A>G rs1804769861
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter) rs73569592
NM_152419.3(HGSNAT):c.1575_1576del (p.Glu526fs)
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter) rs1802738210
NM_152419.3(HGSNAT):c.1614-1G>C
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr) rs2130821593
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1726+1G>A
NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter) rs1802741140
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter) rs1803166332
NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter) rs1803167331
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter) rs1803181154
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter) rs1803182974
NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter) rs553837106
NM_152419.3(HGSNAT):c.563+1G>C
NM_152419.3(HGSNAT):c.563+2T>A rs2130722124
NM_152419.3(HGSNAT):c.564-1G>A
NM_152419.3(HGSNAT):c.567_568delinsT (p.Leu189fs)
NM_152419.3(HGSNAT):c.634-2A>G
NM_152419.3(HGSNAT):c.716_720del (p.Arg239fs)
NM_152419.3(HGSNAT):c.728dup (p.Asp244fs)
NM_152419.3(HGSNAT):c.742G>A (p.Gly248Arg)
NM_152419.3(HGSNAT):c.743+1del rs1554531744
NM_152419.3(HGSNAT):c.744-2A>C
NM_152419.3(HGSNAT):c.744-2A>G rs762402992
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser) rs767574122
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter) rs1803654249
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
NM_152419.3(HGSNAT):c.820+1G>A
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) rs1085307112
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser) rs2130754863
NM_152419.3(HGSNAT):c.851+1G>A rs1554532283
NM_152419.3(HGSNAT):c.851+1G>T rs1554532283
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) rs1803878901
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211

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