ClinVar Miner

List of variants in gene TRPV4 studied for Spondyloepiphyseal dysplasia Maroteaux type

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Total variants: 5
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NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys) rs267607150
NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) rs267607149
NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys) rs387906324
TRPV4, 17-BP DEL, NT2396

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