List of variants in gene MED25 studied for Charcot-Marie-Tooth disease type 2B2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_030973.4(MED25):c.1483-7C>T	rs2017698	0.01612
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)	rs145770066	0.00443
NM_030973.4(MED25):c.1675-7C>T	rs79635160	0.00123
NM_030973.4(MED25):c.1438C>G (p.Leu480Val)	rs148214958	0.00011
NM_030973.4(MED25):c.316G>A (p.Gly106Arg)	rs147136530	0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr)	rs775622130	0.00001
NM_030973.4(MED25):c.949G>T (p.Gly317Cys)	rs1280659782	0.00001
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)	rs770792425
NM_030973.4(MED25):c.633A>T (p.Thr211=)	rs369117035

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