List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-IV-A by Revvity Omics, Revvity

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)	rs145798311	0.00004
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)	rs894525161	0.00002
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)	rs398123438	0.00001
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)
NM_000512.5(GALNS):c.1242+1G>C
NM_000512.5(GALNS):c.245-2A>G	rs1352162269
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
NM_000512.5(GALNS):c.675_676del (p.Phe227fs)	rs2143001422
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)	rs118204448
NM_000512.5(GALNS):c.892del (p.Glu298fs)

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