List of variants studied for Mucopolysaccharidosis, MPS-III-C by Myriad Genetics, Inc.

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		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.493+1G>A	rs193066451	0.00013
NM_152419.3(HGSNAT):c.1250+1G>A	rs398124544	0.00002
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)	rs777276988	0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	rs754875934	0.00002
NM_152419.3(HGSNAT):c.234+1G>A	rs483352908	0.00001
NM_152419.3(HGSNAT):c.1058_1059insT (p.Val354fs)	rs2487036515
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter)	rs1804526900
NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)	rs2487089692
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter)	rs753355844
NM_152419.3(HGSNAT):c.1517_1523del (p.Arg506fs)	rs2487114607
NM_152419.3(HGSNAT):c.1542+4dup	rs1401818080
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter)	rs73569592
NM_152419.3(HGSNAT):c.1575_1576del (p.Glu526fs)	rs2487117774
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)	rs2486955614
NM_152419.3(HGSNAT):c.716_720del (p.Arg239fs)	rs2486963752
NM_152419.3(HGSNAT):c.728dup (p.Asp244fs)	rs2486963908
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)	rs1803654249
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)	rs1803878901

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