ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2N

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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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.*324G>A rs141837805 0.00173
NM_001605.2(AARS1):c.-108T>C rs779683414 0.00135
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_001605.3(AARS1):c.*131G>A rs555883502 0.00021
NM_001605.3(AARS1):c.1493-7T>C rs376087556 0.00019
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.333+3A>C rs747431164 0.00010
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys) rs758423103 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001605.3(AARS1):c.*169C>G rs554221793 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg) rs769182022 0.00002
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu) rs754391789 0.00002
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr) rs374478964 0.00002
NM_001605.3(AARS1):c.618G>T (p.Gln206His) rs139785247 0.00002
NM_001605.3(AARS1):c.828C>G (p.Ala276=) rs914414911 0.00002
NM_001605.3(AARS1):c.*32T>C rs771868425 0.00001
NM_001605.3(AARS1):c.1059C>T (p.Val353=) rs1054385792 0.00001
NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu) rs774143119 0.00001
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile) rs1468385890 0.00001
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val) rs142128800 0.00001
NM_001605.3(AARS1):c.1514C>T (p.Thr505Met) rs755492122 0.00001
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys) rs764124393 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001605.3(AARS1):c.2109G>C (p.Val703=) rs777499923 0.00001
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys) rs1223915249 0.00001
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg) rs1224948634 0.00001
NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr) rs886052253 0.00001
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) rs786205157 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001605.3(AARS1):c.63C>T (p.Asn21=) rs773045737 0.00001
NM_001605.3(AARS1):c.806C>G (p.Ala269Gly) rs769239545 0.00001
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala) rs886052256 0.00001
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr) rs750331983 0.00001
NM_001605.3(AARS1):c.962+15C>T rs779150762 0.00001
NM_015459.5(ATL3):c.1392A>G (p.Ile464Met) rs376091022 0.00001
NM_001605.3(AARS1):c.1087G>C (p.Glu363Gln)
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr) rs2152160177
NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr) rs763513667
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1596C>A (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp) rs371617479
NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr) rs387906792
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg) rs886052254
NM_001605.3(AARS1):c.2401-11A>G rs377576408
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.2677G>A (p.Asp893Asn) rs786205851
NM_001605.3(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.480-8T>G rs751472610
NM_001605.3(AARS1):c.501C>T (p.Leu167=) rs1567608510
NM_001605.3(AARS1):c.596A>T (p.Asp199Val)
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621

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