ClinVar Miner

List of variants in gene MED25 reported as likely pathogenic for Charcot-Marie-Tooth disease type 2B2

Included ClinVar conditions (3):

Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2B2; Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_030973.4(MED25):c.316G>A (p.Gly106Arg)	rs147136530	0.00001
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)	rs770792425

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