ClinVar Miner

List of variants in gene combination LOC129992813, PKD2 reported as benign for Autosomal dominant polycystic kidney disease

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044 0.23760
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118 0.08616
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377 0.02396
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860 0.00680
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_000297.4(PKD2):c.441G>A (p.Ala147=) rs866815144 0.00109
NM_000297.4(PKD2):c.290AGG[5] (p.Glu102del) rs750077647
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647

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