ClinVar Miner

List of variants reported as uncertain significance for Vertebral, cardiac, renal, and limb defects syndrome 1

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012205.3(HAAO):c.431T>C (p.Ile144Thr)
NM_012205.3(HAAO):c.524G>C (p.Arg175Pro)
NM_018161.5(NADSYN1):c.799-2A>G

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