ClinVar Miner

List of variants in gene AASS studied for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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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.2339A>C (p.Lys780Thr) rs147475291 0.00097
NM_005763.4(AASS):c.2762A>G (p.Gln921Arg) rs140285200 0.00046
NM_005763.4(AASS):c.1048G>A (p.Val350Met) rs780164559 0.00030
NM_005763.4(AASS):c.2317T>A (p.Ser773Thr) rs147414883 0.00024
NM_005763.4(AASS):c.1393C>G (p.Leu465Val) rs1011506361 0.00003
NM_005763.4(AASS):c.395G>A (p.Arg132His) rs761154340 0.00002
NM_005763.4(AASS):c.194G>A (p.Arg65Gln) rs587777125 0.00001
NM_005763.4(AASS):c.3G>A (p.Met1Ile) rs779793755 0.00001
NM_005763.4(AASS):c.874A>G (p.Ile292Val) rs587777122 0.00001
NC_000007.13:g.(121733213_121738503)_(121773796_121784214)del
NC_000007.13:g.(121733213_121738503)_(121784304_?)del
NM_005763.4(AASS):c.1256T>G (p.Leu419Arg) rs587777126
NM_005763.4(AASS):c.1601_1609del (p.Cys534_Glu537delinsTer) rs387906333
NM_005763.4(AASS):c.1733A>G (p.Tyr578Cys)
NM_005763.4(AASS):c.1767-1G>A rs745643453
NM_005763.4(AASS):c.1876A>G (p.Ile626Val) rs1793918338
NM_005763.4(AASS):c.1925C>G (p.Ser642Ter) rs587777124
NM_005763.4(AASS):c.2100T>G (p.Tyr700Ter) rs2150511876
NM_005763.4(AASS):c.2196dup (p.Ala733fs) rs1473312640
NM_005763.4(AASS):c.2662+1_2662+5delinsTT rs587777121
NM_005763.4(AASS):c.904dup (p.Tyr302fs)
NM_005763.4(AASS):c.976_977del (p.Gln326fs) rs587777123

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