ClinVar Miner

List of variants studied for polycystic kidney disease by DECIPHERD-UDD, Universidad del Desarrollo

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His) rs770080914 0.00001
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405

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