List of variants in gene TRPV4 reported as pathogenic for Charcot-Marie-Tooth disease

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: 5

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HGVS	dbSNP
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)	rs387906904
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)	rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)	rs267607143
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)	rs267607145

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