ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis, MPS-III-C by Natera, Inc.

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00230
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.108G>A (p.Ala36=) rs886062952 0.00031
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.39G>C (p.Leu13=) rs1335563220 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=) rs780309535 0.00001
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=) rs1358940142 0.00001

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