ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-II by Pediatrics, All India Institute of Medical Sciences, New Delhi

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter) rs2123994961
NM_000202.8(IDS):c.1254del (p.Pro419fs) rs2123994946
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs) rs2123994213
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs) rs2123994237
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.737del (p.Asn246fs) rs2124042006
NM_000202.8(IDS):c.922G>C (p.Asp308His) rs2124020573

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