List of variants in gene combination GALNS, LOC130059762, TRAPPC2L reported as likely 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)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	rs755832705	0.00003
NM_000512.5(GALNS):c.1A>G (p.Met1Val)	rs771531650	0.00001
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)	rs1967935882
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)	rs1967935603
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)	rs911452920
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)	rs794729202
NM_000512.5(GALNS):c.77dup (p.Ala27fs)	rs2143013573

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