ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala)
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile)
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly)
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly)
NM_003680.3(YARS1):c.298G>A (p.Val100Met) rs766704849
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val)
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154

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