List of variants in gene combination GALNS, LOC126862447 reported as pathogenic for mucopolysaccharidosis type 4A

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)	rs1401175486	0.00001
NC_000016.10:g.(?_88813734)_(88841972_88842705)del
NM_000512.5(GALNS):c.1365-1G>C	rs1909832718
NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)	rs118204439
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter)	rs1330564240
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)	rs1909818289
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)	rs118204440
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	rs760300454
NM_000512.5(GALNS):c.1482+2T>C

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