ClinVar Miner

List of variants reported by Embryology Laboratory, Victor Chang Cardiac Research Institute

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu) rs189928649 0.00016
NM_003937.3(KYNU):c.170-1G>T rs1135401744 0.00014
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) rs758865880 0.00005
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_003937.3(KYNU):c.616G>A (p.Glu206Lys) rs765122670 0.00002
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) rs147475752 0.00001
NM_003937.3(KYNU):c.788A>G (p.His263Arg) rs1458654786 0.00001
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln) rs1363954556 0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) rs527656756 0.00001
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) rs769220327 0.00001
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg) rs771131526
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) rs770642379
NM_003937.3(KYNU):c.361_363del (p.Lys121del) rs767060858
NM_003937.3(KYNU):c.489del (p.Ala164fs) rs752269711
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012205.3(HAAO):c.141C>A (p.His47Gln) rs746702852
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp) rs1672152382
NM_012205.3(HAAO):c.43del (p.Arg15fs) rs1558680405
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) rs1135401743
NM_016312.3(WBP11):c.1559dup (p.Gly521fs) rs767139774
NM_016312.3(WBP11):c.169A>G (p.Met57Val) rs1949936099
NM_016312.3(WBP11):c.280C>T (p.Arg94Ter) rs1949900423
NM_016312.3(WBP11):c.484C>T (p.Gln162Ter) rs1949874442
NM_016312.3(WBP11):c.612del (p.Gly205fs) rs1949868116
NM_016312.3(WBP11):c.688C>T (p.Arg230Ter) rs1949866551
NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val)
NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)
NM_018161.5(NADSYN1):c.1765-7T>A
NM_018161.5(NADSYN1):c.1819del (p.Val607fs) rs1327307171
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) rs1008561025
NM_018161.5(NADSYN1):c.271del (p.Met91fs) rs1376159616
NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) rs1949650831
NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter) rs1555223259

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.