List of variants in gene SCNN1B reported as pathogenic for Pseudohypoaldosteronism, type IB2, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000336.3(SCNN1B):c.1542+1G>A	rs550424284	0.00002
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)	rs137852706	0.00001
NM_000336.3(SCNN1B):c.1271-1G>C	rs2506496434
NM_000336.3(SCNN1B):c.1346+1G>A	rs2506496921
NM_000336.3(SCNN1B):c.1404+1G>T
NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)	rs1962240610
NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)	rs2506410452

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