ClinVar Miner

List of variants reported as pathogenic for adrenogenital syndrome by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter) rs782336856 0.00003
NM_001395413.1(POR):c.1033del (p.Val345fs) rs1563433095 0.00002
NM_001395413.1(POR):c.1354del (p.Gln452fs) rs781805159 0.00002
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) rs121912976 0.00002
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter) rs781946801 0.00002
NM_001395413.1(POR):c.1020del (p.Asp341fs)
NM_001395413.1(POR):c.1044del (p.Asn349fs)
NM_001395413.1(POR):c.1103_1109del (p.Arg368fs)
NM_001395413.1(POR):c.115del (p.Thr39fs)
NM_001395413.1(POR):c.1172del (p.Gln391fs)
NM_001395413.1(POR):c.1178CCTCGGAGC[1] (p.Pro396_Glu398del)
NM_001395413.1(POR):c.1231G>T (p.Glu411Ter)
NM_001395413.1(POR):c.1320del (p.Ile441fs)
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1337_1338dup (p.Leu447fs)
NM_001395413.1(POR):c.1406_1407del (p.Val469fs) rs782395275
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter) rs373613946
NM_001395413.1(POR):c.1434C>G (p.Tyr478Ter)
NM_001395413.1(POR):c.1442_1446del (p.Lys481fs)
NM_001395413.1(POR):c.1492G>T (p.Glu498Ter)
NM_001395413.1(POR):c.1519_1561dup (p.Pro521fs)
NM_001395413.1(POR):c.1523_1542dup (p.Lys515fs)
NM_001395413.1(POR):c.1562_1610dup (p.Ala538fs) rs1563435458
NM_001395413.1(POR):c.1613dup (p.Pro539fs)
NM_001395413.1(POR):c.1631_1634del (p.Ile544fs)
NM_001395413.1(POR):c.1676_1679dup (p.Leu561fs) rs781914230
NM_001395413.1(POR):c.1690_1691dup (p.Gly565fs)
NM_001395413.1(POR):c.1792del (p.Glu598fs)
NM_001395413.1(POR):c.1795C>T (p.Gln599Ter)
NM_001395413.1(POR):c.1807-1G>A
NM_001395413.1(POR):c.251dup (p.Tyr84Ter)
NM_001395413.1(POR):c.259C>T (p.Gln87Ter)
NM_001395413.1(POR):c.322C>T (p.Arg108Ter) rs1181572912
NM_001395413.1(POR):c.385_386dup (p.Asp129fs)
NM_001395413.1(POR):c.386del (p.Asp129fs)
NM_001395413.1(POR):c.40G>T (p.Glu14Ter)
NM_001395413.1(POR):c.458del (p.Tyr153fs)
NM_001395413.1(POR):c.64_65del (p.Leu22fs)
NM_001395413.1(POR):c.658C>T (p.Arg220Ter)
NM_001395413.1(POR):c.697del (p.Val233fs)
NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)
NM_001395413.1(POR):c.768del (p.Lys257fs)
NM_001395413.1(POR):c.828del (p.Phe276fs)
NM_001395413.1(POR):c.955dup (p.His319fs)
NM_001395413.1(POR):c.981_988dup (p.Leu330fs)

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.