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

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP
NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr)	rs387906902
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His)	rs77975504
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile)	rs121912633
NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu)	rs121912637
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln)	rs397514494
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
NM_021625.4(TRPV4):c.947G>A (p.Arg316His)	rs387906905
NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly)

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