ClinVar Miner

List of variants in gene AASS reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337 0.00469
NM_005763.4(AASS):c.1107T>C (p.Cys369=) rs61750983 0.00238
NM_005763.4(AASS):c.2762A>G (p.Gln921Arg) rs140285200 0.00046
NM_005763.4(AASS):c.1529-3T>C rs200857543 0.00015
NM_005763.4(AASS):c.1497A>G (p.Leu499=) rs369170463 0.00001
NM_005763.4(AASS):c.2634C>T (p.Thr878=) rs768298788
NM_005763.4(AASS):c.466G>A (p.Val156Met) rs2486095163

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