ClinVar Miner

List of variants in gene YARS1 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.1079C>A (p.Pro360Gln)
NM_003680.3(YARS1):c.1080A>G (p.Pro360=)
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1179C>T (p.Asp393=) rs373909518
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.1246C>A (p.Gln416Lys)
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.1486A>G (p.Lys496Glu)
NM_003680.3(YARS1):c.381-6C>T rs376982377
NM_003680.3(YARS1):c.471G>A (p.Glu157=)
NM_003680.3(YARS1):c.483G>C (p.Leu161=) rs780528629
NM_003680.3(YARS1):c.507G>A (p.Leu169=)
NM_003680.3(YARS1):c.510+10G>C rs201272488
NM_003680.3(YARS1):c.511-10C>T
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.681A>G (p.Glu227=)
NM_003680.3(YARS1):c.684+3A>G rs375332060
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr) rs138454151

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