ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance by Gharavi Laboratory,Columbia University

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Total variants: 8
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NM_138694.4(PKHD1):c.11601_11602TG[1] (p.Val3868fs) rs1561991558
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.3334_3335insTTT (p.Thr1112delinsIleSer) rs1562188854
NM_138694.4(PKHD1):c.7118T>C (p.Leu2373Pro) rs1562532468
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9560del (p.Ser3187fs) rs1562222437
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540

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