ClinVar Miner

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

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.37C>T (p.Arg13Ter) rs761931081 0.00005
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.1789C>T (p.Arg597Ter) rs768830699 0.00003
NM_001605.3(AARS1):c.1705C>T (p.Arg569Ter) rs747434741 0.00001
NM_001605.3(AARS1):c.2083C>T (p.Arg695Ter) rs761043713 0.00001
NM_001605.3(AARS1):c.2518C>T (p.Arg840Ter) rs1173826571 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter) rs1398433261 0.00001
NM_001605.3(AARS1):c.370C>T (p.Gln124Ter) rs1960557616 0.00001
NM_001605.3(AARS1):c.691A>T (p.Lys231Ter) rs1960369184 0.00001
NM_001605.3(AARS1):c.720_721del (p.Gly241fs) rs977976041 0.00001
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter) rs756337758 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) rs758183257 0.00001
NC_000016.10:g.(?_70264948)_(70282773_?)del
NC_000016.9:g.(?_70286624)_(70304263_?)del
NC_000016.9:g.(?_70286624)_(70305895_?)del
NC_000016.9:g.(?_70294927)_(70311077_?)del
NC_000016.9:g.(?_70301542)_(70301732_?)del
NC_000016.9:g.(?_70301542)_(70305895_?)del
NC_000016.9:g.(?_70310369)_(70316666_?)del
NM_001605.3(AARS1):c.1002del (p.Arg333_Tyr334insTer)
NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys) rs2152160733
NM_001605.3(AARS1):c.1032del (p.Phe345fs) rs2507013974
NM_001605.3(AARS1):c.111dup (p.Thr38fs) rs1597448762
NM_001605.3(AARS1):c.1140_1141delinsAT (p.Gln381Ter) rs2507012689
NM_001605.3(AARS1):c.11_15del (p.Thr4fs) rs1211684571
NM_001605.3(AARS1):c.1222G>T (p.Gly408Ter) rs369135192
NM_001605.3(AARS1):c.1275_1276del (p.Gly426fs) rs1555540896
NM_001605.3(AARS1):c.1330G>T (p.Glu444Ter) rs1292379905
NM_001605.3(AARS1):c.1567C>T (p.Gln523Ter)
NM_001605.3(AARS1):c.1600_1603del (p.Phe534fs) rs2507003569
NM_001605.3(AARS1):c.1618_1619dup (p.Gln541fs) rs1567604571
NM_001605.3(AARS1):c.1679_1680del (p.Glu560fs) rs1438690757
NM_001605.3(AARS1):c.1792C>T (p.Arg598Ter) rs752548366
NM_001605.3(AARS1):c.1813del (p.His605fs)
NM_001605.3(AARS1):c.1877del (p.Gly626fs) rs2506997974
NM_001605.3(AARS1):c.1939del (p.Gln647fs) rs772774828
NM_001605.3(AARS1):c.1967delinsAGGTGATTGAGG (p.Ala656fs) rs1597435790
NM_001605.3(AARS1):c.1998_1999del (p.Thr668fs) rs1597435337
NM_001605.3(AARS1):c.2017del (p.Leu673fs) rs781347519
NM_001605.3(AARS1):c.2070T>G (p.Tyr690Ter) rs754266971
NM_001605.3(AARS1):c.2130del (p.Ser711fs)
NM_001605.3(AARS1):c.2324_2325del (p.Ser775fs) rs1567601355
NM_001605.3(AARS1):c.2425C>T (p.Gln809Ter)
NM_001605.3(AARS1):c.2538_2539delinsTT (p.Lys846_Gln847delinsAsnTer) rs2506989427
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer) rs763937206
NM_001605.3(AARS1):c.651del (p.Val218fs) rs1960409206
NM_001605.3(AARS1):c.743dup (p.Ser249fs)
NM_001605.3(AARS1):c.962+1del rs1960348987
NM_001605.3(AARS1):c.966T>A (p.Tyr322Ter) rs145859060
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter) rs145859060
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter) rs868097991

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