ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease dominant intermediate D by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):

Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.504G>A (p.Val168=)	rs145592910	0.00074
NM_000530.8(MPZ):c.*52G>A	rs774701563	0.00014
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)	rs202176679	0.00005
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)	rs530923760	0.00003
NM_000530.8(MPZ):c.-49C>A	rs750777955

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