ClinVar Miner

List of variants in gene QARS1 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.1426G>A (p.Val476Ile) rs144092780 0.00162
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu) rs142327602 0.00099
NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp) rs553194272 0.00028
NM_005051.3(QARS1):c.1568G>A (p.Arg523Gln) rs201013732 0.00025
NM_005051.3(QARS1):c.1246G>A (p.Val416Ile) rs147076980 0.00024
NM_005051.3(QARS1):c.337G>A (p.Val113Met) rs767616063 0.00011
NM_005051.3(QARS1):c.461G>A (p.Arg154Gln) rs201032950 0.00010
NM_005051.3(QARS1):c.1825G>A (p.Ala609Thr) rs62621222 0.00003
NM_005051.3(QARS1):c.1673G>A (p.Arg558His) rs749254902 0.00001
NM_005051.3(QARS1):c.1778C>T (p.Pro593Leu) rs923115953 0.00001
NM_005051.3(QARS1):c.557A>G (p.Glu186Gly) rs1346246672 0.00001
NM_005051.3(QARS1):c.977G>A (p.Gly326Asp) rs746002985 0.00001
NM_005051.3(QARS1):c.2164G>T (p.Val722Leu)
NM_005051.3(QARS1):c.278A>T (p.Tyr93Phe)
NM_005051.3(QARS1):c.858C>A (p.Phe286Leu) rs1307590384
NM_005051.3(QARS1):c.971G>T (p.Trp324Leu) rs2042456429

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