ClinVar Miner

Variants in gene WNK1 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: 30
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HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.759+15A>C rs11064518 0.05581
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907 0.00815
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299 0.00803
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_213655.5(WNK1):c.2172T>C (p.Val724=) rs72649808 0.00266
NM_213655.5(WNK1):c.2270C>T (p.Pro757Leu) rs562247853 0.00263
NM_018979.4(WNK1):c.3489+17A>G rs185323017 0.00213
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263 0.00211
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) rs72650721 0.00173
NM_213655.5(WNK1):c.2659T>C (p.Leu887=) rs72649855 0.00167
NM_018979.4(WNK1):c.5284C>T (p.Leu1762=) rs72650741 0.00116
NM_018979.4(WNK1):c.1154-16G>A rs72648630 0.00108
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510 0.00096
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=) rs149852592 0.00072
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala) rs142543401 0.00061
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val) rs141428612 0.00050
NM_018979.4(WNK1):c.5496G>A (p.Gln1832=) rs138219481 0.00025
NM_018979.4(WNK1):c.5583+16T>G rs369251741 0.00024
NM_018979.4(WNK1):c.2290A>G (p.Thr764Ala) rs143890340 0.00022
NM_213655.5(WNK1):c.2772A>G (p.Glu924=) rs371538921 0.00016
NM_018979.4(WNK1):c.2664A>G (p.Val888=) rs769020140 0.00012
NM_018979.4(WNK1):c.5001C>T (p.Ser1667=) rs187067527 0.00008
NM_018979.4(WNK1):c.5493A>T (p.Thr1831=) rs202024020 0.00004
NM_018979.4(WNK1):c.4270A>G (p.Ile1424Val) rs752331641 0.00001
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150

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