List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-III-C

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00361
NM_152419.3(HGSNAT):c.493+1G>A	rs193066451	0.00013
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)	rs766835582	0.00004
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.1209G>T (p.Trp403Cys)	rs764206492	0.00002
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.1345dup (p.Asp449fs)	rs483352894	0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)	rs771455190	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.1516C>T (p.Arg506Ter)	rs747240928	0.00001
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)	rs121908286	0.00001
NM_152419.3(HGSNAT):c.234+1G>A	rs483352908	0.00001
NM_152419.3(HGSNAT):c.493+809T>C	rs1042066401	0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	rs121908282	0.00001
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)	rs752939204
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)	rs763301637
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)	rs1057518644
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)	rs370717845
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)	rs483352895
NM_152419.3(HGSNAT):c.739del (p.Arg247fs)	rs1085307880
NM_152419.3(HGSNAT):c.744-2A>G	rs762402992
NM_152419.3(HGSNAT):c.852-1G>A	rs1447092074
NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter)	rs121908283

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