List of variants reported as likely pathogenic for mucopolysaccharidosis type 4A by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)	rs1478665723	0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)	rs559063128	0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	rs747805226	0.00001
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)	rs1910973930
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)	rs1967935882
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)	rs752937387
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
NM_000512.5(GALNS):c.1483-2A>C
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)	rs948490589
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)	rs1422505598
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)	rs746949976
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)	rs1912009292
NM_000512.5(GALNS):c.835del (p.Asp279fs)
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)	rs1389218771

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