ClinVar Miner

List of variants reported as likely pathogenic for Pseudohypoaldosteronism type 1 autosomal dominant

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Total variants: 4
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HGVS dbSNP
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_000901.5(NR3C2):c.2096del (p.Pro699fs) rs748573472
NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg) rs1560928649
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter) rs1553986377

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