List of variants reported as likely benign for mucopolysaccharidosis type 4A by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.*3C>G	rs77826920	0.01005
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)	rs112454391	0.00404
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)	rs150734270	0.00173
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)	rs142822371	0.00093
NM_000512.5(GALNS):c.303C>T (p.Asn101=)	rs79146426	0.00092
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)	rs150582627	0.00077
NM_000512.5(GALNS):c.858G>A (p.Thr286=)	rs140299014	0.00068
NM_000512.5(GALNS):c.121-4G>A	rs200008960	0.00030
NM_000512.5(GALNS):c.771C>T (p.Ala257=)	rs370586494	0.00021
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)	rs137927658	0.00009
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)	rs374619390	0.00006
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)	rs761385192	0.00004
NM_000512.5(GALNS):c.567-3C>T	rs549597016	0.00001

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