ClinVar Miner

List of variants in gene PKD2 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.844-22G>A rs2725221 0.66782
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.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.1546G>T (p.Val516Leu) rs143581690 0.00028
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001

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