ClinVar Miner

List of variants reported as uncertain significance for Pyridoxine-dependent epilepsy by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549
NM_001182.5(ALDH7A1):c.1010T>G (p.Phe337Cys) rs747834606
NM_001182.5(ALDH7A1):c.1022G>A (p.Ser341Asn) rs141701364
NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr) rs553114356
NM_001182.5(ALDH7A1):c.1066C>G (p.Gln356Glu) rs138675705
NM_001182.5(ALDH7A1):c.1084C>T (p.Pro362Ser) rs532800318
NM_001182.5(ALDH7A1):c.1124A>G (p.Lys375Arg)
NM_001182.5(ALDH7A1):c.1129G>A (p.Ala377Thr)
NM_001182.5(ALDH7A1):c.1163C>G (p.Ala388Gly) rs1561651205
NM_001182.5(ALDH7A1):c.119C>G (p.Ala40Gly)
NM_001182.5(ALDH7A1):c.1270G>A (p.Ala424Thr)
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.1356A>C (p.Lys452Asn)
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) rs1057518529
NM_001182.5(ALDH7A1):c.1451A>G (p.Asn484Ser) rs1561648688
NM_001182.5(ALDH7A1):c.1520A>C (p.Glu507Ala) rs80049945
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)
NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln) rs765562932
NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe) rs1554097854
NM_001182.5(ALDH7A1):c.16C>T (p.Arg6Cys)
NM_001182.5(ALDH7A1):c.18C>T (p.Arg6=)
NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp)
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748
NM_001182.5(ALDH7A1):c.20C>T (p.Ala7Val) rs1561674305
NM_001182.5(ALDH7A1):c.246+6A>T rs759910341
NM_001182.5(ALDH7A1):c.247G>A (p.Ala83Thr) rs1561672611
NM_001182.5(ALDH7A1):c.263A>T (p.Tyr88Phe) rs376294954
NM_001182.5(ALDH7A1):c.283G>A (p.Ala95Thr)
NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu) rs796052269
NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=) rs149228266
NM_001182.5(ALDH7A1):c.355G>A (p.Asp119Asn) rs1212969829
NM_001182.5(ALDH7A1):c.359C>A (p.Ala120Asp)
NM_001182.5(ALDH7A1):c.359C>G (p.Ala120Gly) rs549279821
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118
NM_001182.5(ALDH7A1):c.430G>A (p.Val144Met)
NM_001182.5(ALDH7A1):c.542A>G (p.Gln181Arg) rs796052257
NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile) rs61757685
NM_001182.5(ALDH7A1):c.553G>T (p.Val185Leu) rs61757685
NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe) rs566243475
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645
NM_001182.5(ALDH7A1):c.577G>A (p.Ala193Thr) rs773503933
NM_001182.5(ALDH7A1):c.656G>C (p.Gly219Ala)
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001182.5(ALDH7A1):c.682G>A (p.Val228Met) rs201832111
NM_001182.5(ALDH7A1):c.686C>T (p.Ala229Val) rs1473102872
NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val)
NM_001182.5(ALDH7A1):c.79G>C (p.Ala27Pro) rs1060502950
NM_001182.5(ALDH7A1):c.843G>C (p.Gln281His)
NM_001182.5(ALDH7A1):c.853A>G (p.Met285Val)
NM_001182.5(ALDH7A1):c.866_871+2dup
NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His) rs759866910
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910
NM_001182.5(ALDH7A1):c.913+5G>A
NM_001182.5(ALDH7A1):c.914C>G (p.Ala305Gly) rs141775154
NM_001182.5(ALDH7A1):c.936C>G (p.Ser312Arg) rs1561654302
NM_001182.5(ALDH7A1):c.952G>A (p.Ala318Thr)
NM_001182.5(ALDH7A1):c.952G>C (p.Ala318Pro) rs936151635
NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser)
NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser)

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.