ClinVar Miner

List of variants reported as benign for Polycystic kidney disease 2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.844-22G>A rs2725221 0.66782
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.596-16C>T rs62310565 0.01932
NM_000297.4(PKD2):c.710-29G>A rs72873478 0.01046
NM_000297.4(PKD2):c.2358+23G>A rs10516804 0.01042
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860 0.00680
NM_000297.4(PKD2):c.2119-35T>C rs78885971 0.00524
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011

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