ClinVar Miner

List of variants studied for autosomal recessive polycystic kidney disease by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg) rs2128244638
NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro) rs2150414704
NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro)

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