List of variants studied for mucopolysaccharidosis type 4A by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.120+1532G>C	rs34150867	0.38226
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)	rs78127134	0.00140
NM_000512.5(GALNS):c.1243-2A>C	rs2142992422
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)	rs1597515555
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)	rs727503946
NM_000512.5(GALNS):c.426T>A (p.His142Gln)	rs754616917
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)	rs794729202
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)	rs761725425
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)	rs569725936

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