ClinVar Miner

List of variants studied for polycystic kidney disease by Institute of Human Genetics, University Hospital Muenster

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.8491A>G (p.Arg2831Gly) rs767914998 0.00001
NM_138694.4(PKHD1):c.5831A>G (p.Asp1944Gly) rs2127946960
NM_138694.4(PKHD1):c.8108-1G>C rs2151550125

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