ClinVar Miner

List of variants in gene PKHD1 reported as benign by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_138694.3(PKHD1):c.6333-8_6333-7delTT rs138161138
NM_138694.3(PKHD1):c.779-13_779-12delTT rs5876252
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653

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