ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561
NM_002972.4(SBF1):c.3905-9C>T rs574807761
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) rs570393243
NM_002972.4(SBF1):c.898-4G>A rs377428323
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met) rs35925274
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=) rs773419235
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.619+14G>A rs770398029
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.93-20C>G rs1592293275

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