ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 4E by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):

Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate d; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive
Congenital hypomyelinating neuropathy 1, autosomal recessive

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP
NM_000530.8(MPZ):c.*624C>T	rs60821801
NM_000530.8(MPZ):c.*761A>G	rs16832786
NM_000530.8(MPZ):c.901_902GA[7]	rs149030537
NM_000530.8(MPZ):c.600G>A (p.Gly200=)	rs16832790
NM_003001.3(SDHC):c.-38G>A	rs112556972
NM_003001.3(SDHC):c.20+11_20+12dup	rs35215598

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