ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease, dominant intermediate C by Illumina Clinical Services Laboratory,Illumina

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Total variants: 22
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HGVS dbSNP
NM_003680.3(YARS1):c.*369G>A rs879511403
NM_003680.3(YARS1):c.*399G>A rs890588915
NM_003680.3(YARS1):c.*539A>G rs550239801
NM_003680.3(YARS1):c.*599A>C rs542816112
NM_003680.3(YARS1):c.*724T>C rs950577466
NM_003680.3(YARS1):c.-110G>A rs748353138
NM_003680.3(YARS1):c.-157G>A
NM_003680.3(YARS1):c.-167T>A rs1057515514
NM_003680.3(YARS1):c.-260G>A
NM_003680.3(YARS1):c.-269C>T rs772899682
NM_003680.3(YARS1):c.-333C>T rs1057515442
NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr) rs778099655
NM_003680.3(YARS1):c.391C>T (p.Leu131=) rs759430430
NM_003680.3(YARS1):c.466G>T (p.Val156Leu)
NM_003680.3(YARS1):c.511-14G>A rs1057515513
NM_003680.3(YARS1):c.579C>T (p.Thr193=)
NM_003680.3(YARS1):c.685-11A>G rs751943571
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp) rs753211165
NM_022753.4(S100PBP):c.-120+175T>G rs1057515550
NM_022753.4(S100PBP):c.-120+337C>T
NM_022753.4(S100PBP):c.-124C>G
NM_022753.4(S100PBP):c.-150G>A

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