List of variants in gene ARSB reported as uncertain significance for not provided

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)	rs1065757	0.34419
NM_000046.5(ARSB):c.317G>A (p.Arg106His)	rs150087888	0.00230
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)	rs140923667	0.00088
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)	rs146704780	0.00045
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)	rs200040980	0.00039
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser)	rs145553034	0.00016
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)	rs200364654	0.00013
NM_000046.5(ARSB):c.1197C>T (p.Phe399=)	rs200793396	0.00012
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)	rs199931771	0.00010
NM_000046.5(ARSB):c.1336+2T>G	rs768012515	0.00003
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg)	rs398123124	0.00001
GRCh37/hg19 5q14.1(chr5:78152436-78247936)x3
GRCh37/hg19 5q14.1(chr5:78170166-78247951)x3
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)	rs1057520739
NM_000046.5(ARSB):c.880G>A (p.Val294Met)
NM_000046.5(ARSB):c.899-10T>G	rs727503810

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