ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_000296.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.2(PKD1):c.5557A>G (p.Thr1853Ala) rs1064797206
NM_001009944.2(PKD1):c.6622G>C (p.Gly2208Arg) rs779825346
NM_001009944.2(PKD1):c.7495C>T (p.His2499Tyr)
NM_001009944.2(PKD1):c.7720C>T (p.Leu2574Phe) rs762784886
NM_001009944.2(PKD1):c.9029T>A (p.Leu3010Gln)

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