ClinVar Miner

List of variants reported as pathogenic for Pseudohypoaldosteronism type 2B by GeneReviews

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Total variants: 8
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HGVS dbSNP
NM_032387.5(WNK4):c.1679A>G (p.Glu560Gly) rs193922734
NM_032387.5(WNK4):c.1682C>T (p.Pro561Leu) rs193922735
NM_032387.5(WNK4):c.1684G>A (p.Glu562Lys) rs137853093
NM_032387.5(WNK4):c.1690G>C (p.Asp564His) rs193922736
NM_032387.5(WNK4):c.1691A>C (p.Asp564Ala) rs137853094
NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu) rs137853092
NM_032387.5(WNK4):c.3505A>G (p.Lys1169Glu) rs193922737
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) rs137853095

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