ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease, dominant intermediate C by Invitae

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Total variants: 34
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HGVS dbSNP
NM_003680.3(YARS1):c.1079C>A (p.Pro360Gln) rs562054969
NM_003680.3(YARS1):c.1080A>G (p.Pro360=) rs752514117
NM_003680.3(YARS1):c.1128C>T (p.Ile376=) rs777332870
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1149T>C (p.Asp383=) rs772261295
NM_003680.3(YARS1):c.1179C>T (p.Asp393=) rs373909518
NM_003680.3(YARS1):c.1227C>T (p.Phe409=) rs763636325
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.1246C>A (p.Gln416Lys) rs76611863
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.1407G>T (p.Val469=) rs377419078
NM_003680.3(YARS1):c.1486A>G (p.Lys496Glu) rs200375230
NM_003680.3(YARS1):c.270A>G (p.Leu90=) rs1569777416
NM_003680.3(YARS1):c.381-6C>T rs376982377
NM_003680.3(YARS1):c.471G>A (p.Glu157=) rs1569769936
NM_003680.3(YARS1):c.483G>C (p.Leu161=) rs780528629
NM_003680.3(YARS1):c.507G>A (p.Leu169=) rs200278380
NM_003680.3(YARS1):c.510+10G>C rs201272488
NM_003680.3(YARS1):c.511-10C>T rs376935793
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.681A>G (p.Glu227=) rs370095798
NM_003680.3(YARS1):c.820+9C>G rs1569722586
NM_003680.3(YARS1):c.996C>T (p.Ala332=) rs1003798493
NM_003680.4(YARS1):c.102G>A (p.Arg34=)
NM_003680.4(YARS1):c.1506C>T (p.Ile502=)
NM_003680.4(YARS1):c.213T>A (p.Ile71=)
NM_003680.4(YARS1):c.303C>T (p.Ile101=)
NM_003680.4(YARS1):c.363T>C (p.Thr121=)
NM_003680.4(YARS1):c.432T>C (p.Asp144=)
NM_003680.4(YARS1):c.45C>T (p.Thr15=)
NM_003680.4(YARS1):c.477T>C (p.Pro159=)
NM_003680.4(YARS1):c.675T>A (p.Ser225=)
NM_003680.4(YARS1):c.684+10C>T
NM_003680.4(YARS1):c.807T>C (p.Phe269=)

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