ClinVar Miner

List of variants in gene QARS1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.163C>T (p.Leu55=) rs58012546 0.00181
NM_005051.3(QARS1):c.1426G>A (p.Val476Ile) rs144092780 0.00169
NM_005051.3(QARS1):c.2064G>A (p.Glu688=) rs144316335 0.00072
NM_005051.3(QARS1):c.1200C>G (p.Ala400=) rs374202707 0.00011
NM_005051.3(QARS1):c.1999C>T (p.Arg667Trp) rs370587517 0.00011
NM_005051.3(QARS1):c.720C>T (p.Thr240=) rs143724892 0.00005
NM_005051.3(QARS1):c.2068C>T (p.Arg690Cys) rs370934093 0.00004
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp) rs774980346 0.00002
NM_005051.3(QARS1):c.1160T>G (p.Phe387Cys) rs899079673 0.00001
NM_005051.3(QARS1):c.1832T>G (p.Ile611Ser) rs757743183 0.00001
NM_005051.3(QARS1):c.125A>C (p.Gln42Pro) rs546520104
NM_005051.3(QARS1):c.1958G>A (p.Gly653Asp) rs770657741
NM_005051.3(QARS1):c.2193T>A (p.Ser731=) rs1449000257
NM_005051.3(QARS1):c.632-10dup rs775642346
NM_005051.3(QARS1):c.722C>T (p.Pro241Leu) rs1553752233

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