ClinVar Miner

List of variants in gene combination S100PBP, YARS1 reported as benign for Charcot-Marie-Tooth disease, dominant intermediate C

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Total variants: 15
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HGVS dbSNP
NM_003680.3(YARS1):c.-129C>A
NM_003680.3(YARS1):c.-188G>T
NM_003680.3(YARS1):c.-245T>C
NM_003680.3(YARS1):c.-283G>A rs113748028
NM_003680.3(YARS1):c.52C>T (p.Leu18=) rs147538442
NM_003680.3(YARS1):c.57+14G>T rs72654020
NM_022753.4(S100PBP):c.-120+178C>T
NM_022753.4(S100PBP):c.-120+19G>A rs534491159
NM_022753.4(S100PBP):c.-120+217C>T rs112104823
NM_022753.4(S100PBP):c.-120+238G>A rs72654022
NM_022753.4(S100PBP):c.-120+293G>C rs3737251
NM_022753.4(S100PBP):c.-120+296G>A rs547181978
NM_022753.4(S100PBP):c.-120+94C>A rs114349735
NM_022753.4(S100PBP):c.-123G>A rs115959445
NM_022753.4(S100PBP):c.-128C>T rs537314587

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