ClinVar Miner

List of variants in gene FGD1 reported as uncertain significance for Aarskog-Scott syndrome, X-linked

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) rs373950992 0.00005
NM_004463.3(FGD1):c.598C>T (p.Pro200Ser) rs773941303 0.00001
NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del) rs757595052
NM_004463.3(FGD1):c.1197C>A (p.Phe399Leu)
NM_004463.3(FGD1):c.1409A>G (p.Tyr470Cys)
NM_004463.3(FGD1):c.1432G>A (p.Val478Met)
NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup) rs1557189266
NM_004463.3(FGD1):c.1500G>A (p.Lys500=)
NM_004463.3(FGD1):c.1700G>A (p.Arg567Gln)
NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser) rs1557188567
NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser) rs1601950673
NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg) rs1557188473
NM_004463.3(FGD1):c.2154G>A (p.Val718=)
NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr) rs2147422996
NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg)
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp) rs910374883
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg) rs1029761293
NM_004463.3(FGD1):c.486C>A (p.Pro162=)
NM_004463.3(FGD1):c.492G>T (p.Lys164Asn) rs2147435731

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.