List of variants in gene LOC126863160, NAGA studied for alpha-N-acetylgalactosaminidase deficiency type 2

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000262.3(NAGA):c.279G>A (p.Pro93=)	rs133369	0.64950
NM_000262.3(NAGA):c.25C>T (p.Leu9=)	rs147528904	0.00293
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)	rs73167107	0.00128
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)	rs121434532	0.00052
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)	rs200080569	0.00017
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)	rs141557187	0.00013
NM_000262.3(NAGA):c.110G>A (p.Arg37His)	rs199834981	0.00009
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)	rs182798205	0.00004
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)	rs372458856	0.00004
NM_000262.3(NAGA):c.582C>T (p.Gly194=)	rs553977653	0.00004
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe)	rs886057597	0.00001
NM_000262.3(NAGA):c.549C>T (p.Ile183=)	rs374984089	0.00001
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)	rs186173534
NM_000262.3(NAGA):c.486C>G (p.Pro162=)	rs760003063
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter)	rs121434531

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