List of variants in gene HGSNAT reported as likely benign for Mucopolysaccharidosis, MPS-III-C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)	rs73569592	0.03631
NM_152419.3(HGSNAT):c.*817C>T	rs78952714	0.01352
NM_152419.3(HGSNAT):c.*3213T>A	rs141634395	0.00899
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)	rs148632988	0.00633
NM_152419.3(HGSNAT):c.*2258A>G	rs78930544	0.00584
NM_152419.3(HGSNAT):c.*2767C>T	rs74762381	0.00479
NM_152419.3(HGSNAT):c.1250+7G>A	rs74795999	0.00475
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00361
NM_152419.3(HGSNAT):c.*2740C>T	rs114940430	0.00314
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)	rs182393180	0.00177
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)	rs200678234	0.00080
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)	rs184883937	0.00077
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)	rs372909374	0.00038
NM_152419.3(HGSNAT):c.*106G>A	rs186881132	0.00024
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)	rs147251143	0.00019
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)	rs775663094	0.00009
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)	rs772611068	0.00004
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)	rs752466254	0.00004
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=)	rs772729729	0.00002
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)	rs367648422	0.00002
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=)	rs780309535	0.00001
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=)	rs1358940142	0.00001
NM_152419.3(HGSNAT):c.*2802C>G	rs187372766

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