ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-II by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00115
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00011
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00005
NM_000202.8(IDS):c.1025A>G (p.His342Arg)
NM_000202.8(IDS):c.1036G>A (p.Ala346Thr)
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro) rs113993946
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs) rs2089304532
NM_000202.8(IDS):c.339dup (p.Gly114fs)
NM_000202.8(IDS):c.358C>T (p.Pro120Ser)
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779

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