ClinVar Miner

List of variants in gene YARS1 reported as 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: 21
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HGVS dbSNP
NM_003680.3(YARS1):c.*138G>A rs41265857
NM_003680.3(YARS1):c.*21C>A rs149812692
NM_003680.3(YARS1):c.*284A>G rs150690731
NM_003680.3(YARS1):c.*293A>G rs16866009
NM_003680.3(YARS1):c.*386G>T rs144131403
NM_003680.3(YARS1):c.*439T>C rs184249741
NM_003680.3(YARS1):c.*680A>G rs536402126
NM_003680.3(YARS1):c.*681T>G rs78319035
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr) rs141323599
NM_003680.3(YARS1):c.1080A>G (p.Pro360=)
NM_003680.3(YARS1):c.1082A>T (p.Glu361Val) rs61737106
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.1275C>T (p.Asn425=) rs778718842
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.135G>A (p.Thr45=)
NM_003680.3(YARS1):c.1374G>A (p.Pro458=) rs151227410
NM_003680.3(YARS1):c.415G>A (p.Val139Met) rs772729857
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443

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