ClinVar Miner

List of variants in gene OPHN1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.237T>C (p.Asp79=) rs143062911 0.00052
NM_002547.3(OPHN1):c.1506T>A (p.Leu502=) rs142413712 0.00044
NM_002547.3(OPHN1):c.315A>G (p.Val105=) rs770804956 0.00027
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_002547.3(OPHN1):c.2062G>T (p.Ala688Ser) rs199985543 0.00013
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) rs780149034 0.00003
NM_002547.3(OPHN1):c.148A>G (p.Met50Val) rs367993068 0.00001
NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly) rs760163301 0.00001
NM_002547.3(OPHN1):c.2316A>G (p.Thr772=) rs1403350105 0.00001
NM_002547.3(OPHN1):c.1025+2T>C rs1602231145
NM_002547.3(OPHN1):c.1105-1G>T rs1555951715
NM_002547.3(OPHN1):c.1173del (p.Lys392fs) rs2147457199
NM_002547.3(OPHN1):c.1204A>T (p.Ile402Phe) rs2147456047
NM_002547.3(OPHN1):c.1256del (p.Lys419fs) rs1602225800
NM_002547.3(OPHN1):c.1277-14C>T
NM_002547.3(OPHN1):c.1277-1G>C rs1064797373
NM_002547.3(OPHN1):c.1490G>A (p.Arg497Gln)
NM_002547.3(OPHN1):c.1526+5G>T rs2077105291
NM_002547.3(OPHN1):c.155-1G>A
NM_002547.3(OPHN1):c.1554T>G (p.Leu518=)
NM_002547.3(OPHN1):c.1665A>G (p.Ile555Met)
NM_002547.3(OPHN1):c.2007C>T (p.Asp669=)
NM_002547.3(OPHN1):c.2073A>G (p.Gly691=)
NM_002547.3(OPHN1):c.2217C>A (p.Arg739=)
NM_002547.3(OPHN1):c.360G>A (p.Arg120=) rs727504062
NM_002547.3(OPHN1):c.468_471del (p.Lys156fs) rs2147523877
NM_002547.3(OPHN1):c.522T>C (p.Phe174=)
NM_002547.3(OPHN1):c.916A>C (p.Lys306Gln) rs2077560487

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.