ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-II by Revvity Omics, Revvity

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.1373G>A (p.Arg458His) rs782697859 0.00003
NM_000202.8(IDS):c.785T>A (p.Val262Glu) rs782053689 0.00001
NM_000202.8(IDS):c.890G>A (p.Arg297His) rs1290154616 0.00001
NM_000202.8(IDS):c.116T>A (p.Val39Asp) rs2520902410
NM_000202.8(IDS):c.119T>C (p.Leu40Pro) rs2520902336
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu) rs868934036
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg) rs782041174
NM_000202.8(IDS):c.200T>C (p.Leu67Pro) rs2520901143
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr) rs146458524

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