List of variants reported as benign for Charcot-Marie-Tooth disease dominant intermediate C

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Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_022753.4(S100PBP):c.-120+293G>C	rs3737251	0.13215
NM_003680.4(YARS1):c.57+14G>T	rs72654020	0.10621
NM_003680.4(YARS1):c.1218G>C (p.Leu406=)	rs699005	0.10610
NM_022753.4(S100PBP):c.-120+238G>A	rs72654022	0.07993
NM_003680.4(YARS1):c.*293A>G	rs16866009	0.04739
NM_022753.4(S100PBP):c.-123G>A	rs115959445	0.02048
NM_022753.4(S100PBP):c.-120+178C>T	rs59686477	0.01434
NM_003680.4(YARS1):c.*681T>G	rs78319035	0.00714
NM_022753.4(S100PBP):c.-120+94C>A	rs114349735	0.00447
NM_003680.4(YARS1):c.*284A>G	rs150690731	0.00347
NM_003680.4(YARS1):c.1082A>T (p.Glu361Val)	rs61737106	0.00343
NM_003680.4(YARS1):c.*439T>C	rs184249741	0.00294
NM_003680.3(YARS1):c.-188G>T	rs184477254	0.00218
NM_003680.3(YARS1):c.-245T>C	rs189362780	0.00218
NM_003680.4(YARS1):c.52C>T (p.Leu18=)	rs147538442	0.00218
NM_003680.4(YARS1):c.*138G>A	rs41265857	0.00159
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)	rs149620809	0.00128
NM_003680.4(YARS1):c.1374G>A (p.Pro458=)	rs151227410	0.00123
NM_022753.4(S100PBP):c.-120+19G>A	rs534491159	0.00102
NM_022753.4(S100PBP):c.-120+217C>T	rs112104823	0.00102
NM_003680.3(YARS1):c.-283G>A	rs113748028	0.00101
NM_003680.4(YARS1):c.*21C>A	rs149812692	0.00066
NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr)	rs141323599	0.00066
NM_003680.4(YARS1):c.*386G>T	rs144131403	0.00053
NM_003680.3(YARS1):c.-129C>A	rs560979597	0.00051
NM_003680.4(YARS1):c.1008G>A (p.Leu336=)	rs140232925	0.00034
NM_003680.4(YARS1):c.505C>T (p.Leu169=)	rs149741618	0.00029
NM_003680.4(YARS1):c.60G>A (p.Glu20=)	rs143712443	0.00024
NM_003680.4(YARS1):c.1228G>A (p.Val410Met)	rs146393022	0.00020
NM_022753.4(S100PBP):c.-128C>T	rs537314587	0.00011
NM_003680.4(YARS1):c.*680A>G	rs536402126	0.00009
NM_003680.4(YARS1):c.1275C>T (p.Asn425=)	rs778718842	0.00007
NM_003680.4(YARS1):c.1080A>G (p.Pro360=)	rs752514117	0.00002
NM_003680.4(YARS1):c.1141-9C>G	rs761211081	0.00002
NM_003680.4(YARS1):c.415G>A (p.Val139Met)	rs772729857	0.00002
NM_003680.4(YARS1):c.1141-16C>T
NM_003680.4(YARS1):c.135G>A (p.Thr45=)	rs549109061
NM_003680.4(YARS1):c.820+17del	rs765601557
NM_022753.4(S100PBP):c.-120+296G>A	rs547181978

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