ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type 4H by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 7
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HGVS dbSNP
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.236C>T (p.Thr79Ile) rs145115430
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.494dup (p.Leu167fs) rs1592294998
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.93-20C>G rs1592293275

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