ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Molecular Genetics Laboratory,London Health Sciences Centre

Included ClinVar conditions (134):
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Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser) rs140135726
NM_001605.2(AARS1):c.1108A>G (p.Met370Val) rs199976742
NM_001605.2(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234
NM_001605.2(AARS1):c.1409T>A (p.Ile470Asn) rs1567605658
NM_001605.2(AARS1):c.1420C>T (p.Arg474Trp)
NM_001605.2(AARS1):c.1811A>G (p.Asn604Ser) rs371595630
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met)
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu) rs150873930
NM_001605.2(AARS1):c.2222C>T (p.Thr741Met) rs148383122
NM_001605.2(AARS1):c.2251A>G (p.Arg751Gly) rs143370729
NM_001605.2(AARS1):c.2580G>A (p.Leu860=) rs145581652
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser) rs746822330
NM_001605.2(AARS1):c.385C>G (p.Pro129Ala) rs370622071
NM_001605.2(AARS1):c.783C>G (p.Asp261Glu) rs1374950172
NM_001605.2(AARS1):c.958C>T (p.Arg320Cys) rs138490305
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr)
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)
NM_001605.3(AARS1):c.72G>A (p.Thr24=)

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