ClinVar Miner

List of variants studied for polycystic kidney disease 1 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.1654del (p.Asp552fs) rs2151819777
NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs) rs2151809215
NM_001009944.3(PKD1):c.9726_9727insA (p.Leu3243fs) rs2151739862

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