List of variants studied for mucopolysaccharidosis type 4A by GeneReviews

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		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)	rs118204438	0.00008
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	rs118204437	0.00006
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)	rs118204447	0.00003
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)	rs118204442	0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)	rs118204446	0.00002
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)	rs398123433	0.00001
NM_000512.5(GALNS):c.898+1G>C	rs761850746	0.00001
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)	rs1567509070
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)	rs1967945316
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)	rs118204435

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