ClinVar Miner

List of variants studied for Autosomal recessive pseudohypoaldosteronism type 1 by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys) rs1001641230 0.00001
NM_001038.6(SCNN1A):c.1221_1227dup (p.Lys410fs) rs1565478701
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519

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