List of variants in gene NR0B1 reported as pathogenic by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)	rs1555972957
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.1340T>C (p.Leu447Pro)	rs1555972641
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs)	rs1555972640
NM_000475.5(NR0B1):c.277del (p.Ala93fs)	rs1555973189
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)	rs1555973172
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)	rs1131691564
NM_000475.5(NR0B1):c.754del (p.Gln252fs)	rs1555973063
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp)	rs1555973045
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)	rs104894907
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)	rs1324519932
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter)	rs1555972994

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