ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Robinow syndrome 1 by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) rs1568105666
NM_001466.4(FZD2):c.367_388dup (p.Phe130fs) rs2144572390
NM_004423.4(DVL3):c.1585del (p.Ala529fs) rs869025215
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-2A>G rs869025216
NM_004423.4(DVL3):c.1716del (p.Ser573fs) rs869025218
NM_004423.4(DVL3):c.1749del (p.Ser583fs) rs869025219

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