ClinVar Miner

List of variants reported as uncertain significance for 46,XY sex reversal 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000475.5(NR0B1):c.1004C>A (p.Pro335His) rs374818572 0.00005
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp) rs1926565735 0.00005
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro) rs374625081 0.00003
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn) rs1213986618 0.00001
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser) rs1361268108 0.00001
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp) rs758704782 0.00001
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg) rs751178592
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe) rs2519050847
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg) rs2519050800
NM_000475.5(NR0B1):c.1234A>G (p.Ser412Gly)
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val) rs1569267996
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu) rs1926600775
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg) rs2519052030
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg) rs374378686
NM_000475.5(NR0B1):c.257G>A (p.Ser86Asn)
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg) rs368742214
NM_000475.5(NR0B1):c.382C>G (p.Leu128Val)
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys) rs2519051759
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr) rs2519051758
NM_000475.5(NR0B1):c.434T>C (p.Ile145Thr)
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe) rs1399028516
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu) rs1348796820
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu) rs774979360
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg) rs747161880
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr) rs1926576351
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val) rs753698783
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu) rs759270255
NM_000475.5(NR0B1):c.781G>A (p.Gly261Ser)
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) rs1926571373
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
NM_000475.5(NR0B1):c.805G>C (p.Val269Leu)
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) rs1555973045
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu) rs2519052273

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.