ClinVar Miner

List of variants in gene TRPV4 reported as pathogenic for Brachyrachia (short spine dysplasia)

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Total variants: 2
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NM_021625.4(TRPV4):c.1847G>A (p.Arg616Gln) rs121912632
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633

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