ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-II by MGZ Medical Genetics Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp) rs2520896190
NM_000202.8(IDS):c.664G>T (p.Ala222Ser) rs2520862911
NM_000202.8(IDS):c.867del (p.Val290fs) rs2520850014
NM_000202.8(IDS):c.880-2A>T rs2520813902
NM_000202.8(IDS):c.908_909del (p.Ser303fs) rs193302913

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