ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-I-S

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_000203.5(IDUA):c.299+3990A>G rs3822020 0.66462
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.21694
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17458
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.17199
NM_000203.5(IDUA):c.1727+72T>G rs2305488 0.17150
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00076
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00058
NM_000203.5(IDUA):c.590-7G>A rs762411583 0.00004
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser) rs1577541140
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1853_1855del (p.Tyr618_Arg619delinsTer)
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.34_46del (p.Ala12fs) rs2534003354
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.723C>A (p.Cys241Ter)
NM_000203.5(IDUA):c.973-45G>C rs6831021

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