ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6 by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser) rs375647920 0.00009
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys) rs202134230 0.00005
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223

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