ClinVar Miner

List of variants in gene CNTNAP1, LOC125177481 studied for arthrogryposis syndrome

Included ClinVar conditions (130):
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Gene type:
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=) rs2271029 0.58855
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter) rs1597802927

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