ClinVar Miner

Variants in gene PKD2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
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.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=) rs555242193 0.00017
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001

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