ClinVar Miner

List of variants in gene AARS1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_001605.3(AARS1):c.962+18T>C rs149761815 0.00391
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_001605.3(AARS1):c.1428G>C (p.Arg476=) rs80257731 0.00041
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 0.00038
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser) rs199997425 0.00010
NM_001605.3(AARS1):c.1689G>A (p.Val563=) rs536370318 0.00007
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 0.00005
NM_001605.3(AARS1):c.1398C>T (p.Asp466=) rs770132954 0.00001
NM_001605.3(AARS1):c.2478G>A (p.Met826Ile) rs1385044712 0.00001
NM_001605.3(AARS1):c.907C>T (p.Arg303Trp) rs1302363015 0.00001
NM_001605.3(AARS1):c.1290A>G (p.Glu430=) rs1567605886
NM_001605.3(AARS1):c.14dup (p.Thr6fs)
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu) rs115882953
NM_001605.3(AARS1):c.2177+5G>A rs2152153454
NM_001605.3(AARS1):c.2232C>T (p.Ala744=) rs2152151841
NM_001605.3(AARS1):c.2287-12G>A rs749357717
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys) rs146540551

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