ClinVar Miner

List of variants in gene TRPV4 reported as pathogenic for Charcot-Marie-Tooth disease axonal type 2C

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 11
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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

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