ClinVar Miner

List of variants reported as likely pathogenic for mucopolysaccharidosis type 3C by Myriad Genetics, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1058_1059insT (p.Val354fs)
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter) rs1804526900
NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter) rs753355844
NM_152419.3(HGSNAT):c.1517_1523del (p.Arg506fs)
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.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.567_568delinsT (p.Leu189fs)
NM_152419.3(HGSNAT):c.716_720del (p.Arg239fs)
NM_152419.3(HGSNAT):c.728dup (p.Asp244fs)
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter) rs1803654249
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) rs1803878901

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