ClinVar Miner

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

Included ClinVar conditions (138):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_001605.2(AARS1):c.*251A>C rs116553521
NM_001605.2(AARS1):c.*74A>T rs11537663
NM_001605.2(AARS1):c.1044G>C (p.Thr348=) rs181264712
NM_001605.2(AARS1):c.1332G>A (p.Glu444=) rs150442667
NM_001605.2(AARS1):c.1404C>T (p.Tyr468=) rs117598688
NM_001605.2(AARS1):c.1428G>C (p.Arg476=) rs80257731
NM_001605.2(AARS1):c.1481G>T (p.Ser494Ile) rs771059047
NM_001605.2(AARS1):c.1672-4T>A rs187509039
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2608-6C>A rs200965527
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_001605.2(AARS1):c.561C>T (p.Cys187=) rs78523270
NM_001605.2(AARS1):c.64G>A (p.Glu22Lys) rs151091410
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.700C>T (p.Pro234Ser) rs141840552
NM_001605.2(AARS1):c.741G>A (p.Leu247=) rs148075561
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_001605.2(AARS1):c.904G>A (p.Ala302Thr) rs576221121
NM_001605.3(AARS1):c.*141A>G

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