List of variants reported as pathogenic for Mucopolysaccharidosis type 6 by Mendelics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)	rs1310996698
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)	rs2112530498
NM_000046.5(ARSB):c.427del (p.Val143fs)	rs766914147
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile)	rs2112211996

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