RS515726154 TRPV4
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What This Variant Does
"CLNSIG=5
Associated Conditions
Skeletal dysplasia
Skeletal dysplasia and progressive central nervous system degeneration
lethal
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Skeletal dysplasia
Skeletal dysplasia and progressive central nervous system degeneration
lethal
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Other Variants in TRPV4