ClinVar Miner

List of variants in gene combination S100PBP, YARS1 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
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.40A>T (p.Ile14Phe)
NM_003680.3(YARS1):c.41T>C (p.Ile14Thr) rs1553127237
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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