ClinVar Miner

List of variants in gene PKD1L1 studied for lung disorder

Included ClinVar conditions (132):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu) rs138130715 0.00037
NM_138295.5(PKD1L1):c.1543G>A (p.Gly515Arg)
NM_138295.5(PKD1L1):c.6549G>T (p.Gln2183His)

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