List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-IV-A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	rs755832705	0.00003
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)	rs770053354	0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)	rs894525161	0.00002
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)	rs1478665723	0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)	rs747805226	0.00001
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.239C>T (p.Ser80Leu)	rs1209154325

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