ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant Robinow syndrome 3

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001466.4(FZD2):c.1301G>T (p.Gly434Val) rs1555657073
NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter) rs2109022762
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-1G>C rs869025217
NM_004423.4(DVL3):c.1715-2del rs2109023862
NM_004423.4(DVL3):c.292del (p.Glu98fs)

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