ClinVar Miner

List of variants in gene AARS1 reported as benign for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_001605.3(AARS1):c.*74A>T rs11537663 0.05921
NM_001605.3(AARS1):c.*251A>C rs116553521 0.01298
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.*141A>G rs576707006 0.00161
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.2608-6C>A rs200965527 0.00088
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.2369A>T (p.Asp790Val) rs555357914 0.00072
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
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.561C>T (p.Cys187=) rs78523270 0.00019
NM_001605.3(AARS1):c.1108A>G (p.Met370Val) rs199976742 0.00014
NM_001605.3(AARS1):c.1938C>G (p.Thr646=) rs147822575 0.00014
NM_001605.3(AARS1):c.744A>G (p.Val248=) rs752618189 0.00013
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665 0.00012
NM_001605.3(AARS1):c.1509G>A (p.Val503=) rs138406510 0.00011
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) rs771059047 0.00003
NM_001605.3(AARS1):c.1656T>C (p.Asp552=) rs148659998 0.00001
NM_001605.3(AARS1):c.2287-13T>G rs553083906 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_001605.3(AARS1):c.1222+16del rs748889882
NM_001605.3(AARS1):c.144+12del
NM_001605.3(AARS1):c.144+12dup
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1993-4G>A rs528932248
NM_001605.3(AARS1):c.2287-7dup
NM_001605.3(AARS1):c.2608-16C>T rs371163247

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