List of variants reported as likely pathogenic for glucocorticoid-remediable aldosteronism

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	rs35152987	0.00158
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)	rs193922538	0.00008
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)	rs61752786	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)	rs375892072	0.00003
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	rs764598023	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)	rs779103938	0.00001
NM_000497.4(CYP11B1):c.1150C>T (p.Arg384Ter)
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	rs2130266157
NM_000497.4(CYP11B1):c.1398+4A>G	rs1586557065
NM_000497.4(CYP11B1):c.617G>T (p.Gly206Val)	rs1255308813
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)	rs1327055239

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