List of variants in gene NR0B1 reported as likely pathogenic for adrenal cortex disorder

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000475.5(NR0B1):c.1006dup (p.Val336fs)	rs1926565039
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)	rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)	rs386134263
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)	rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del	rs1555972943
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)	rs1569268070
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln)	rs1926485824
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs)	rs2147007005
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
NM_000475.5(NR0B1):c.617del (p.His206fs)
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro)	rs2147006592
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)	rs104894888
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro)	rs1060499835

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