ClinVar Miner

List of variants in gene HGSNAT reported as likely pathogenic for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 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.564-1G>A rs1242842147 0.00001
NM_152419.3(HGSNAT):c.744-2A>C rs762402992 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000008.10:g.(?_43033197)_(43033397_?)dup
NM_152419.3(HGSNAT):c.1013-1G>C rs1804147747
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) rs756420301
NM_152419.3(HGSNAT):c.1129-11_1134del
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.119-2A>C
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1378-2A>G rs2130810560
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1543-2A>G rs1804769861
NM_152419.3(HGSNAT):c.1565_1577del (p.Thr522fs)
NM_152419.3(HGSNAT):c.1614-1G>C rs2487118434
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr) rs2130821593
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.1726+1G>A rs2487119248
NM_152419.3(HGSNAT):c.208dup (p.Tyr70fs)
NM_152419.3(HGSNAT):c.272del (p.Pro91fs) rs1803166641
NM_152419.3(HGSNAT):c.321_324dup (p.Ser109fs)
NM_152419.3(HGSNAT):c.494-2A>G rs2486918870
NM_152419.3(HGSNAT):c.563+1G>C rs2486919501
NM_152419.3(HGSNAT):c.563+2T>A rs2130722124
NM_152419.3(HGSNAT):c.634-2A>G rs2486962491
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs) rs2486963476
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser) rs767574122
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile) rs2486973322
NM_152419.3(HGSNAT):c.820+1G>A rs2486973391
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser) rs2130754863
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter) rs777146364

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