ClinVar Miner

List of variants in gene AARS1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
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.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_001605.3(AARS1):c.1428G>C (p.Arg476=) rs80257731 0.00041
NM_001605.3(AARS1):c.1839C>T (p.Phe613=) rs141374386 0.00024
NM_001605.3(AARS1):c.2217C>T (p.Ile739=) rs770980206 0.00022
NM_001605.3(AARS1):c.561C>T (p.Cys187=) rs78523270 0.00019
NM_001605.3(AARS1):c.480-8T>C rs751472610 0.00016
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_001605.3(AARS1):c.849T>C (p.Val283=) rs773866431 0.00004
NM_001605.3(AARS1):c.1275T>C (p.Thr425=) rs750552137 0.00003
NM_001605.3(AARS1):c.1995C>T (p.Ala665=) rs754212203 0.00001
NM_001605.3(AARS1):c.417C>T (p.Gly139=) rs758260278 0.00001
NM_001605.3(AARS1):c.704A>G (p.Lys235Arg) rs755350912 0.00001
NM_001605.3(AARS1):c.751C>T (p.Leu251=) rs375106256 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.480-8T>G rs751472610

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