List of variants in gene combination CYP11B1, LOC106799833 reported as pathogenic for glucocorticoid-remediable aldosteronism

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)	rs146124466	0.00032
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser)	rs1421641874	0.00001
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)	rs1256580853
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)	rs28934586
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)	rs1447069098
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	rs104894061

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