ClinVar Miner

List of variants in gene TRPV4 reported as pathogenic for Spondylometaphyseal dysplasia, Kozlowski type

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Total variants: 5
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HGVS dbSNP
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.4(TRPV4):c.2146G>T (p.Ala716Ser) rs121912635
NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) rs267607149
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly) rs121912634

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