ClinVar Miner

List of variants studied for autosomal recessive polycystic kidney disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs) rs2127663896
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756

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