ClinVar Miner

List of variants reported as uncertain significance for Pseudohypoaldosteronism type 2B

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) rs137853095 0.00024
NM_032387.5(WNK4):c.*148C>T rs556182339 0.00019
NM_032387.5(WNK4):c.2625A>G (p.Pro875=) rs749781217 0.00006
NM_032387.5(WNK4):c.2009G>A (p.Arg670His) rs367768336 0.00003
NM_032387.5(WNK4):c.2823G>A (p.Leu941=) rs371107660 0.00002
NM_032387.5(WNK4):c.3440C>T (p.Ser1147Leu) rs768159533 0.00002
NM_032387.5(WNK4):c.937C>G (p.Pro313Ala) rs139202412 0.00002
NM_032387.5(WNK4):c.1073T>A (p.Val358Glu) rs1482267302 0.00001
NM_032387.5(WNK4):c.1339G>A (p.Asp447Asn) rs566923583 0.00001
NM_032387.5(WNK4):c.14C>T (p.Pro5Leu) rs577125376 0.00001
NM_032387.5(WNK4):c.2610C>T (p.Pro870=) rs771639017 0.00001
NM_032387.5(WNK4):c.2860C>T (p.Pro954Ser) rs2054652994 0.00001
NM_032387.5(WNK4):c.3432-5C>T rs764350226 0.00001
NM_032387.5(WNK4):c.3523A>G (p.Ile1175Val) rs761259011 0.00001
NM_032387.5(WNK4):c.3632-14C>A rs770224589 0.00001
NM_032387.5(WNK4):c.450G>A (p.Arg150=) rs377745941 0.00001
NM_032387.5(WNK4):c.643C>T (p.Arg215Trp) rs758123242 0.00001
NM_032387.5(WNK4):c.*340C>A rs886052954
NM_032387.5(WNK4):c.*370A>G rs1028992331
NM_032387.5(WNK4):c.1095_1096delinsTT (p.Met365Ile) rs1568027491
NM_032387.5(WNK4):c.1357C>T (p.Leu453Phe) rs2054535805
NM_032387.5(WNK4):c.1527A>G (p.Ala509=) rs2054560109
NM_032387.5(WNK4):c.164G>A (p.Arg55His) rs955842877
NM_032387.5(WNK4):c.1741+9C>G rs2054563885
NM_032387.5(WNK4):c.1809G>A (p.Gln603=) rs768020150
NM_032387.5(WNK4):c.1822del (p.Val608fs) rs762079039
NM_032387.5(WNK4):c.2264T>A (p.Met755Lys) rs2054629400
NM_032387.5(WNK4):c.2681C>T (p.Pro894Leu) rs2054650116
NM_032387.5(WNK4):c.2814C>G (p.Ala938=) rs1204473276
NM_032387.5(WNK4):c.2900C>G (p.Pro967Arg) rs775923469
NM_032387.5(WNK4):c.316C>A (p.Pro106Thr) rs2054476902
NM_032387.5(WNK4):c.3223C>T (p.Arg1075Cys) rs201421543
NM_032387.5(WNK4):c.3242G>A (p.Gly1081Glu)
NM_032387.5(WNK4):c.3409G>A (p.Glu1137Lys) rs773000314
NM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys) rs200519604
NM_032387.5(WNK4):c.3659G>T (p.Gly1220Val) rs756125712
NM_032387.5(WNK4):c.3676C>T (p.Gln1226Ter)
NM_032387.5(WNK4):c.560C>T (p.Thr187Met) rs1186879600
NM_032387.5(WNK4):c.716C>A (p.Ser239Ter)
NM_032387.5(WNK4):c.79C>G (p.Pro27Ala) rs749459405

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